diff --git a/.github/scripts/validate_mappings.py b/.github/scripts/validate_mappings.py index db75d1a..6577aeb 100644 --- a/.github/scripts/validate_mappings.py +++ b/.github/scripts/validate_mappings.py @@ -5,7 +5,9 @@ predictor's `mappings/ari.synonym_blocklist.tsv` for structural problems, malformed identifiers and internal contradictions, that the two files agree with each other, and that both agree with the stored -cross-references in `ontologies/ari_t1d.owl`. +cross-references in `ontologies/ari_t1d.owl`. Also checks that every Symptom +individual's `symptomConcept` agrees with +`notebook/symptom-mapping/symptom_mapping.tsv`. Usage: python .github/scripts/validate_mappings.py # audit everything @@ -43,6 +45,15 @@ # beside it is the generated evidence behind these decisions and is a report, so # nothing here validates it. BLOCKLIST_PATH = "mappings/ari.synonym_blocklist.tsv" +# Curated symptom string -> shared ARI symptom (ARIS) table. Every Symptom +# individual in the ontology links its row's ARIS class with symptomConcept, +# which notebook/symptom-mapping/build_symptom_mapping.py writes. +SYMPTOM_MAPPING_PATH = "notebook/symptom-mapping/symptom_mapping.tsv" +SYMPTOM_MAPPING_COLUMNS = [ + "Symptom ID", "Symptom", "Mapping", "SYMP ID", "SYMP Label", + "HPO ID", "HPO Label", "HPO Mapping", "Parent Symptom", "Merged Into", +] +ARIS_BASE = "http://www.aurint.org/ontologies/ari-symptoms#" SSSOM_COLUMNS = [ "subject_id", @@ -163,6 +174,7 @@ ANNOTATION_RE = re.compile(r"<(ARI_\w+)[^>]*>(.*?)") LABEL_RE = re.compile(r"]*>(.*?)") CURIE_MAP_RE = re.compile(r"#\s{2,}([A-Za-z0-9_.]+):\s") +SYMPTOM_CONCEPT_RE = re.compile(r'') @dataclass(frozen=True) @@ -1225,6 +1237,92 @@ def check_blocklist(rows: list[Row], diseases: dict[str, Disease] | None, report ) +def expected_symptom_concepts(rows: list[Row], report: Report) -> dict[str, str | None]: + """Symptom string -> the ARIS class IRI its individuals link to; None for `not a symptom`.""" + by_name = {row.fields["Symptom"]: row for row in rows} + expected: dict[str, str | None] = {} + for name, row in by_name.items(): + target = row.fields["Merged Into"] + if target and target not in by_name: + report.error( + "symptom-merge-target", SYMPTOM_MAPPING_PATH, row.line, + f"{name!r} is merged into {target!r}, which has no row.", + ) + continue + symptom_id = by_name[target].fields["Symptom ID"] if target else row.fields["Symptom ID"] + expected[name] = ARIS_BASE + symptom_id.replace(":", "_") if symptom_id else None + return expected + + +def check_symptom_concepts(text: str, rows: list[Row], report: Report) -> None: + """Every Symptom individual links the shared symptom its label maps to. + + The label is the key: symptom_mapping.tsv owns which ARIS class a symptom + string is, and symptomConcept is that decision applied to each per-disease + individual. Findings sit on the label line, since a renamed label is what + leaves a link stale. A label with no row yet, or a mapped label not linked + yet, is a warning: the curator added a symptom and the mapping catches up. + A link that disagrees with the row is an error. + """ + expected = expected_symptom_concepts(rows, report) + current: dict | None = None + for index, line in enumerate(text.replace("\r\n", "\n").split("\n"), start=1): + open_match = ENTITY_OPEN_RE.match(line) + if open_match and not line.rstrip().endswith("/>"): + current = { + "close": f"", + "symptom": open_match.group(1) == "Symptom", + "label": None, + "line": index, + "concepts": [], + } + continue + if current is None: + continue + if '' in line: + current["symptom"] = True + label_match = LABEL_RE.search(line) + if label_match: + current["label"] = html.unescape(label_match.group(1)).strip() + current["line"] = index + current["concepts"].extend(SYMPTOM_CONCEPT_RE.findall(line)) + if not line.startswith(current["close"]): + continue + entry, current = current, None + if not entry["symptom"]: + continue + label, line_no, concepts = entry["label"], entry["line"], entry["concepts"] + if len(concepts) > 1: + report.error( + "symptom-concept-repeated", ONTOLOGY_PATH, line_no, + f"Symptom {label!r} has {len(concepts)} symptomConcept values; it is one symptom.", + ) + continue + have = concepts[0] if concepts else None + if label not in expected: + report.warning( + "symptom-unmapped", ONTOLOGY_PATH, line_no, + f"Symptom {label!r} has no row in {SYMPTOM_MAPPING_PATH}" + + (f", so its symptomConcept {have} is left from a former label" if have else "") + + ". Add a row and run notebook/symptom-mapping/build_symptom_mapping.py.", + ) + elif have == expected[label]: + continue + elif have is None: + report.warning( + "symptom-concept-missing", ONTOLOGY_PATH, line_no, + f"Symptom {label!r} maps to {expected[label]} in {SYMPTOM_MAPPING_PATH} but has no " + "symptomConcept. Run notebook/symptom-mapping/build_symptom_mapping.py.", + ) + else: + report.error( + "symptom-concept-mismatch", ONTOLOGY_PATH, line_no, + f"Symptom {label!r} links {have}, but {SYMPTOM_MAPPING_PATH} maps it to " + f"{expected[label] or 'not a symptom'}. Run " + "notebook/symptom-mapping/build_symptom_mapping.py.", + ) + + def main() -> int: parser = argparse.ArgumentParser(description=__doc__) parser.add_argument( @@ -1260,6 +1358,10 @@ def main() -> int: check_against_ontology(sssom_rows, diseases, report) check_equiv_against_ontology(equiv_rows, diseases, report) check_ontology_values(diseases, report) + symptom_text = read_text(SYMPTOM_MAPPING_PATH, report) + if symptom_text: + symptom_rows = split_rows(symptom_text, SYMPTOM_MAPPING_PATH, SYMPTOM_MAPPING_COLUMNS, report) + check_symptom_concepts(current_text(ONTOLOGY_PATH), symptom_rows, report) findings = sorted(report.findings, key=Finding.sort_key) scope = "whole repository" diff --git a/.github/workflows/mappings-validate.yml b/.github/workflows/mappings-validate.yml index 42ccccc..f61155f 100644 --- a/.github/workflows/mappings-validate.yml +++ b/.github/workflows/mappings-validate.yml @@ -10,6 +10,7 @@ on: paths: - 'mappings/**' - 'ontologies/**' + - 'notebook/symptom-mapping/symptom_mapping.tsv' - '.github/scripts/validate_mappings.py' - '.github/workflows/mappings-validate.yml' diff --git a/changelog.md b/changelog.md index 9dcb2a8..e30c218 100644 --- a/changelog.md +++ b/changelog.md @@ -1,5 +1,32 @@ # Changelog +## claude/symptom-concept-links + +Links each per-disease Symptom individual to its shared symptom. "Fatigue" in 76 diseases can now +be queried as one thing, and the 76 individuals stay separate. PR #148 kept same-label individuals +apart on purpose, because each one holds its own disease's likelihood, description and source. The +editor also destroys an individual when it is removed from a disease, so merging them would remove +or edit the symptom for every disease at once. + +- New annotation property `symptomConcept` in `ontologies/ari_t1d.owl`. Its value is the IRI of + the `ARIS_…` class in `notebook/symptom-mapping/ari_symptoms.owl`. It is an annotation property + rather than an object property because the target is a class in another file. +- `symptom_mapping.tsv` owns the link, keyed by the symptom string, and + `build_symptom_mapping.py` writes it. A merged string links the class it merges into. A `not a + symptom` string links nothing. The script edits only these lines and gives the same result on a + second run. +- 2,248 of the 2,294 Symptom individuals are linked: all 2,242 live ones and 6 + obsolete ones whose labels map. The other 46 are obsolete `not a symptom` entries. +- `ari_symptoms.owl` no longer carries the reverse links (`ariSymptomIndividual`), so the link is + stored in one direction only. +- `validate_mappings.py` checks each link against the TSV, and the PR gate now also runs when the + TSV changes. A link that disagrees with the TSV is an error. A symptom with no row, or a mapped + symptom with no link yet, is a warning, so adding a symptom in the editor doesn't block the publish. +- Report 4's *Diseases (ontology)* counts are corrected for 50 symptoms. The old counts still + included individuals retired or merged in #143, #144, #148 and #149, whose PRs didn't rebuild the report. +- Still to do in the editor (KrishnaTO/ARI-metadata-manager): set `symptomConcept` from the TSV + when a curator adds or renames a symptom. Until then, those symptoms show the warnings above + until the next build. ## claude/uberon-tissue-systems-linking-1f66a5 Links ARI's tissue and system classes to UBERON and imports the UBERON terms they link to. diff --git a/data/4-reports/4_Additional_Info_Index.xlsx b/data/4-reports/4_Additional_Info_Index.xlsx index 8e8d16a..2e714d7 100644 Binary files a/data/4-reports/4_Additional_Info_Index.xlsx and b/data/4-reports/4_Additional_Info_Index.xlsx differ diff --git a/notebook/symptom-mapping/README.md b/notebook/symptom-mapping/README.md index fde98d4..d4ada19 100644 --- a/notebook/symptom-mapping/README.md +++ b/notebook/symptom-mapping/README.md @@ -62,10 +62,29 @@ It then writes: - **`ari_symptoms.owl`**: a class per exact or broader symptom (`ARIS_…`) under its parent. Each class has: - `skos:exactMatch` or `skos:broadMatch` to its SYMP term and to its HPO term - its merged strings as `skos:altLabel` - - `ariSymptomIndividual` links to the Symptom individuals in `ari_t1d.owl` that carry it The SYMP terms it references are copied in with their labels and is_a parents, up to *symptom*, so the file opens in Protégé without importing SYMP. HPO terms are referenced by IRI only. -The OWL file shows the proposal for review. `ontologies/ari_t1d.owl` is still the record, and it -is not changed here. +- **`symptomConcept` in `ontologies/ari_t1d.owl`**: on every Symptom individual, the `ARIS_…` class + its label maps to. A merged label links the class of the symptom it merges into; a `not a + symptom` label links nothing. Every other line of the ontology is left as it is. + +### Symptom individuals and shared symptoms + +A Symptom individual in `ari_t1d.owl` is one symptom *in one disease*: it carries that disease's +likelihood, description and source, and the editor deletes it when a curator removes it from that +disease. So "Fatigue" stays 76 individuals, one per disease, and each points at the one shared +**Fatigue** class here with `symptomConcept`. To ask which diseases list fatigue: + +```sparql +PREFIX ari: +PREFIX aris: +SELECT ?disease WHERE { ?disease ari:hasSymptom ?s . ?s ari:symptomConcept aris:ARIS_0000190 } +``` + +This table owns the link, keyed by the symptom string. The ontology only carries it. +`.github/scripts/validate_mappings.py` checks every link against this table. A wrong link is an +error. A symptom with no row yet, or a mapped symptom with no link yet, is a warning: it appears +when a curator adds or renames a symptom in the editor. To clear it, add the row here and rerun +the build. diff --git a/notebook/symptom-mapping/ari_symptoms.owl b/notebook/symptom-mapping/ari_symptoms.owl index 22feea2..773c292 100644 --- a/notebook/symptom-mapping/ari_symptoms.owl +++ b/notebook/symptom-mapping/ari_symptoms.owl @@ -9,7 +9,7 @@ xmlns="http://www.aurint.org/ontologies/ari-symptoms#"> - ARI symptoms grouped into a hierarchy and mapped to the Symptom Ontology (SYMP) and the Human Phenotype Ontology (HPO) for ARI#132, generated from notebook/symptom-mapping/symptom_mapping.tsv. skos:exactMatch names a SYMP or HPO term with the same meaning, skos:broadMatch the nearest broader one. Strings merged into a symptom are skos:altLabel. ariSymptomIndividual links the Symptom individuals in ontologies/ari_t1d.owl that carry the symptom. SYMP classes are copied with their labels and is_a parents only; HPO terms are referenced by IRI. + ARI symptoms grouped into a hierarchy and mapped to the Symptom Ontology (SYMP) and the Human Phenotype Ontology (HPO) for ARI#132, generated from notebook/symptom-mapping/symptom_mapping.tsv. skos:exactMatch names a SYMP or HPO term with the same meaning, skos:broadMatch the nearest broader one. Strings merged into a symptom are skos:altLabel. The Symptom individuals in ontologies/ari_t1d.owl point at their class with symptomConcept. SYMP classes are copied with their labels and is_a parents only; HPO terms are referenced by IRI. @@ -18,9 +18,6 @@ - - ARI symptom individual - abdominal cramp @@ -1881,7 +1878,6 @@ ARIS:0000597 - @@ -1890,7 +1886,6 @@ ARIS:0000001 - @@ -1899,7 +1894,6 @@ ARIS:0000002 - @@ -1908,11 +1902,6 @@ ARIS:0000003 - - - - - @@ -1921,8 +1910,6 @@ ARIS:0000004 - - @@ -1931,32 +1918,6 @@ ARIS:0000005 - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -1965,7 +1926,6 @@ ARIS:0000006 - @@ -1974,7 +1934,6 @@ ARIS:0000007 - @@ -1983,12 +1942,6 @@ ARIS:0000008 - - - - - - @@ -1997,7 +1950,6 @@ ARIS:0000009 - @@ -2006,7 +1958,6 @@ ARIS:0000010 - @@ -2015,7 +1966,6 @@ ARIS:0000598 - @@ -2024,7 +1974,6 @@ ARIS:0000011 - @@ -2033,7 +1982,6 @@ ARIS:0000012 - @@ -2042,13 +1990,6 @@ ARIS:0000013 - - - - - - - @@ -2057,7 +1998,6 @@ ARIS:0000599 - @@ -2066,7 +2006,6 @@ ARIS:0000600 - @@ -2075,7 +2014,6 @@ ARIS:0000601 - @@ -2084,7 +2022,6 @@ ARIS:0000602 - @@ -2093,7 +2030,6 @@ ARIS:0000014 - @@ -2102,7 +2038,6 @@ ARIS:0000603 - @@ -2111,9 +2046,6 @@ ARIS:0000015 - - - @@ -2122,7 +2054,6 @@ ARIS:0000604 - @@ -2131,7 +2062,6 @@ ARIS:0000605 - @@ -2140,7 +2070,6 @@ ARIS:0000016 - @@ -2149,7 +2078,6 @@ ARIS:0000606 - @@ -2158,7 +2086,6 @@ ARIS:0000607 - @@ -2167,7 +2094,6 @@ ARIS:0000017 - @@ -2176,16 +2102,6 @@ ARIS:0000018 - - - - - - - - - - @@ -2194,7 +2110,6 @@ ARIS:0000019 - @@ -2203,7 +2118,6 @@ ARIS:0000020 - @@ -2212,7 +2126,6 @@ ARIS:0000021 - @@ -2222,14 +2135,6 @@ Weakness in arms - - - - - - - - @@ -2238,7 +2143,6 @@ ARIS:0000608 - @@ -2247,7 +2151,6 @@ ARIS:0000609 - @@ -2256,7 +2159,6 @@ ARIS:0000610 - @@ -2265,7 +2167,6 @@ ARIS:0000023 - @@ -2274,7 +2175,6 @@ ARIS:0000611 - @@ -2283,7 +2183,6 @@ ARIS:0000024 - @@ -2292,7 +2191,6 @@ ARIS:0000612 - @@ -2301,7 +2199,6 @@ ARIS:0000613 - @@ -2310,7 +2207,6 @@ ARIS:0000614 - @@ -2319,7 +2215,6 @@ ARIS:0000615 - @@ -2328,7 +2223,6 @@ ARIS:0000616 - @@ -2337,7 +2231,6 @@ ARIS:0000025 - @@ -2346,7 +2239,6 @@ ARIS:0000617 - @@ -2355,16 +2247,6 @@ ARIS:0000026 - - - - - - - - - - @@ -2373,7 +2255,6 @@ ARIS:0000027 - @@ -2382,7 +2263,6 @@ ARIS:0000028 - @@ -2391,7 +2271,6 @@ ARIS:0000029 - @@ -2400,7 +2279,6 @@ ARIS:0000030 - @@ -2409,11 +2287,6 @@ ARIS:0000031 - - - - - @@ -2422,7 +2295,6 @@ ARIS:0000032 - @@ -2431,7 +2303,6 @@ ARIS:0000618 - @@ -2440,7 +2311,6 @@ ARIS:0000619 - @@ -2449,7 +2319,6 @@ ARIS:0000620 - @@ -2458,7 +2327,6 @@ ARIS:0000621 - @@ -2467,7 +2335,6 @@ ARIS:0000622 - @@ -2476,7 +2343,6 @@ ARIS:0000033 - @@ -2485,7 +2351,6 @@ ARIS:0000034 - @@ -2494,8 +2359,6 @@ ARIS:0000035 - - @@ -2504,7 +2367,6 @@ ARIS:0000036 - @@ -2513,8 +2375,6 @@ ARIS:0000037 - - @@ -2523,10 +2383,6 @@ ARIS:0000038 - - - - @@ -2535,10 +2391,6 @@ ARIS:0000039 - - - - @@ -2547,7 +2399,6 @@ ARIS:0000040 - @@ -2556,7 +2407,6 @@ ARIS:0000041 - @@ -2566,16 +2416,6 @@ Fluid-dilled sacs - - - - - - - - - - @@ -2584,7 +2424,6 @@ ARIS:0000043 - @@ -2593,7 +2432,6 @@ ARIS:0000044 - @@ -2602,7 +2440,6 @@ ARIS:0000045 - @@ -2612,9 +2449,6 @@ Skin blisters - - - @@ -2623,7 +2457,6 @@ ARIS:0000047 - @@ -2632,7 +2465,6 @@ ARIS:0000048 - @@ -2642,12 +2474,6 @@ Abdominal bloating - - - - - - @@ -2656,7 +2482,6 @@ ARIS:0000050 - @@ -2665,15 +2490,6 @@ ARIS:0000051 - - - - - - - - - @@ -2682,13 +2498,6 @@ ARIS:0000052 - - - - - - - @@ -2697,17 +2506,6 @@ ARIS:0000053 - - - - - - - - - - - @@ -2716,27 +2514,6 @@ ARIS:0000054 - - - - - - - - - - - - - - - - - - - - - @@ -2745,7 +2522,6 @@ ARIS:0000055 - @@ -2754,10 +2530,6 @@ ARIS:0000056 - - - - @@ -2766,7 +2538,6 @@ ARIS:0000057 - @@ -2775,8 +2546,6 @@ ARIS:0000058 - - @@ -2786,9 +2555,6 @@ Cognitive dysfunction ('brain fog') - - - @@ -2797,8 +2563,6 @@ ARIS:0000060 - - @@ -2807,7 +2571,6 @@ ARIS:0000623 - @@ -2816,7 +2579,6 @@ ARIS:0000624 - @@ -2826,8 +2588,6 @@ Forward displacement of eye - - @@ -2836,7 +2596,6 @@ ARIS:0000062 - @@ -2845,8 +2604,6 @@ ARIS:0000063 - - @@ -2855,7 +2612,6 @@ ARIS:0000064 - @@ -2864,7 +2620,6 @@ ARIS:0000065 - @@ -2874,25 +2629,6 @@ Burning - - - - - - - - - - - - - - - - - - - @@ -2901,7 +2637,6 @@ ARIS:0000067 - @@ -2910,7 +2645,6 @@ ARIS:0000068 - @@ -2919,7 +2653,6 @@ ARIS:0000069 - @@ -2929,9 +2662,6 @@ Burning feeling when urinating - - - @@ -2940,8 +2670,6 @@ ARIS:0000071 - - @@ -2951,12 +2679,6 @@ Butterfly-shaped rash face that covers the cheeks and bridge of the nose - - - - - - @@ -2965,7 +2687,6 @@ ARIS:0000073 - @@ -2974,8 +2695,6 @@ ARIS:0000074 - - @@ -2984,7 +2703,6 @@ ARIS:0000075 - @@ -2993,7 +2711,6 @@ ARIS:0000625 - @@ -3002,7 +2719,6 @@ ARIS:0000076 - @@ -3011,7 +2727,6 @@ ARIS:0000077 - @@ -3020,7 +2735,6 @@ ARIS:0000078 - @@ -3029,7 +2743,6 @@ ARIS:0000079 - @@ -3038,7 +2751,6 @@ ARIS:0000080 - @@ -3047,7 +2759,6 @@ ARIS:0000081 - @@ -3056,7 +2767,6 @@ ARIS:0000082 - @@ -3065,23 +2775,6 @@ ARIS:0000083 - - - - - - - - - - - - - - - - - @@ -3090,13 +2783,6 @@ ARIS:0000084 - - - - - - - @@ -3105,7 +2791,6 @@ ARIS:0000626 - @@ -3114,7 +2799,6 @@ ARIS:0000627 - @@ -3123,7 +2807,6 @@ ARIS:0000628 - @@ -3133,8 +2816,6 @@ Massive hepatosplenomegaly and chronic lymphadenopathy - - @@ -3143,7 +2824,6 @@ ARIS:0000629 - @@ -3152,7 +2832,6 @@ ARIS:0000630 - @@ -3161,7 +2840,6 @@ ARIS:0000631 - @@ -3170,7 +2848,6 @@ ARIS:0000632 - @@ -3179,7 +2856,6 @@ ARIS:0000633 - @@ -3188,7 +2864,6 @@ ARIS:0000086 - @@ -3197,7 +2872,6 @@ ARIS:0000087 - @@ -3206,7 +2880,6 @@ ARIS:0000088 - @@ -3215,7 +2888,6 @@ ARIS:0000634 - @@ -3224,7 +2896,6 @@ ARIS:0000089 - @@ -3233,12 +2904,6 @@ ARIS:0000090 - - - - - - @@ -3247,7 +2912,6 @@ ARIS:0000635 - @@ -3256,7 +2920,6 @@ ARIS:0000091 - @@ -3265,7 +2928,6 @@ ARIS:0000092 - @@ -3275,10 +2937,6 @@ Sensitivity to extreme cold - - - - @@ -3287,10 +2945,6 @@ ARIS:0000094 - - - - @@ -3299,7 +2953,6 @@ ARIS:0000095 - @@ -3308,7 +2961,6 @@ ARIS:0000636 - @@ -3317,8 +2969,6 @@ ARIS:0000096 - - @@ -3327,7 +2977,6 @@ ARIS:0000097 - @@ -3336,7 +2985,6 @@ ARIS:0000637 - @@ -3345,15 +2993,6 @@ ARIS:0000098 - - - - - - - - - @@ -3362,7 +3001,6 @@ ARIS:0000099 - @@ -3371,15 +3009,6 @@ ARIS:0000100 - - - - - - - - - @@ -3388,7 +3017,6 @@ ARIS:0000101 - @@ -3397,18 +3025,6 @@ ARIS:0000102 - - - - - - - - - - - - @@ -3418,8 +3034,6 @@ Spitting up blood - - @@ -3428,7 +3042,6 @@ ARIS:0000638 - @@ -3437,11 +3050,6 @@ ARIS:0000104 - - - - - @@ -3450,7 +3058,6 @@ ARIS:0000639 - @@ -3459,7 +3066,6 @@ ARIS:0000105 - @@ -3468,7 +3074,6 @@ ARIS:0000106 - @@ -3477,7 +3082,6 @@ ARIS:0000107 - @@ -3486,8 +3090,6 @@ ARIS:0000108 - - @@ -3496,12 +3098,6 @@ ARIS:0000109 - - - - - - @@ -3510,7 +3106,6 @@ ARIS:0000110 - @@ -3520,9 +3115,6 @@ Lack of sweat - - - @@ -3531,7 +3123,6 @@ ARIS:0000112 - @@ -3540,7 +3131,6 @@ ARIS:0000113 - @@ -3549,7 +3139,6 @@ ARIS:0000114 - @@ -3559,8 +3148,6 @@ Stunted growth in children - - @@ -3569,7 +3156,6 @@ ARIS:0000116 - @@ -3578,8 +3164,6 @@ ARIS:0000117 - - @@ -3588,7 +3172,6 @@ ARIS:0000118 - @@ -3597,17 +3180,6 @@ ARIS:0000119 - - - - - - - - - - - @@ -3616,7 +3188,6 @@ ARIS:0000120 - @@ -3625,7 +3196,6 @@ ARIS:0000121 - @@ -3634,7 +3204,6 @@ ARIS:0000640 - @@ -3643,7 +3212,6 @@ ARIS:0000122 - @@ -3652,28 +3220,6 @@ ARIS:0000123 - - - - - - - - - - - - - - - - - - - - - - @@ -3682,7 +3228,6 @@ ARIS:0000124 - @@ -3691,7 +3236,6 @@ ARIS:0000125 - @@ -3700,9 +3244,6 @@ ARIS:0000126 - - - @@ -3711,9 +3252,6 @@ ARIS:0000127 - - - @@ -3723,11 +3261,6 @@ Concentration loss - - - - - @@ -3736,7 +3269,6 @@ ARIS:0000129 - @@ -3745,7 +3277,6 @@ ARIS:0000130 - @@ -3754,7 +3285,6 @@ ARIS:0000131 - @@ -3764,8 +3294,6 @@ Trouble rising from a chair - - @@ -3774,7 +3302,6 @@ ARIS:0000133 - @@ -3784,8 +3311,6 @@ Impaired color vision / dyschromatopsia - - @@ -3794,16 +3319,6 @@ ARIS:0000135 - - - - - - - - - - @@ -3812,22 +3327,6 @@ ARIS:0000136 - - - - - - - - - - - - - - - - @@ -3836,7 +3335,6 @@ ARIS:0000137 - @@ -3845,7 +3343,6 @@ ARIS:0000138 - @@ -3854,8 +3351,6 @@ ARIS:0000139 - - @@ -3864,7 +3359,6 @@ ARIS:0000140 - @@ -3873,7 +3367,6 @@ ARIS:0000641 - @@ -3882,7 +3375,6 @@ ARIS:0000642 - @@ -3891,7 +3383,6 @@ ARIS:0000643 - @@ -3902,9 +3393,6 @@ Discomfort in legs that is relieved by movement Discomfort in legs that occur mainly at night - - - @@ -3913,7 +3401,6 @@ ARIS:0000142 - @@ -3922,7 +3409,6 @@ ARIS:0000143 - @@ -3931,8 +3417,6 @@ ARIS:0000144 - - @@ -3941,7 +3425,6 @@ ARIS:0000644 - @@ -3950,7 +3433,6 @@ ARIS:0000645 - @@ -3959,7 +3441,6 @@ ARIS:0000646 - @@ -3968,7 +3449,6 @@ ARIS:0000647 - @@ -3977,7 +3457,6 @@ ARIS:0000648 - @@ -3986,7 +3465,6 @@ ARIS:0000145 - @@ -3994,25 +3472,6 @@ Dizziness ARIS:0000146 - - - - - - - - - - - - - - - - - - - @@ -4021,17 +3480,6 @@ ARIS:0000147 - - - - - - - - - - - @@ -4040,10 +3488,6 @@ ARIS:0000148 - - - - @@ -4053,11 +3497,6 @@ Daytime sleepiness - - - - - @@ -4066,8 +3505,6 @@ ARIS:0000150 - - @@ -4076,15 +3513,6 @@ ARIS:0000151 - - - - - - - - - @@ -4093,11 +3521,6 @@ ARIS:0000152 - - - - - @@ -4106,8 +3529,6 @@ ARIS:0000153 - - @@ -4116,7 +3537,6 @@ ARIS:0000154 - @@ -4125,7 +3545,6 @@ ARIS:0000155 - @@ -4134,7 +3553,6 @@ ARIS:0000156 - @@ -4143,8 +3561,6 @@ ARIS:0000157 - - @@ -4153,7 +3569,6 @@ ARIS:0000158 - @@ -4162,7 +3577,6 @@ ARIS:0000649 - @@ -4171,7 +3585,6 @@ ARIS:0000159 - @@ -4180,7 +3593,6 @@ ARIS:0000650 - @@ -4189,7 +3601,6 @@ ARIS:0000160 - @@ -4198,7 +3609,6 @@ ARIS:0000651 - @@ -4207,15 +3617,6 @@ ARIS:0000161 - - - - - - - - - @@ -4224,7 +3625,6 @@ ARIS:0000162 - @@ -4233,7 +3633,6 @@ ARIS:0000163 - @@ -4242,7 +3641,6 @@ ARIS:0000164 - @@ -4251,7 +3649,6 @@ ARIS:0000165 - @@ -4260,7 +3657,6 @@ ARIS:0000166 - @@ -4269,7 +3665,6 @@ ARIS:0000167 - @@ -4279,8 +3674,6 @@ Epilepsy - - @@ -4289,9 +3682,6 @@ ARIS:0000169 - - - @@ -4300,7 +3690,6 @@ ARIS:0000652 - @@ -4309,7 +3698,6 @@ ARIS:0000170 - @@ -4318,7 +3706,6 @@ ARIS:0000171 - @@ -4328,9 +3715,6 @@ An increase in perspiration or warm, moist skin - - - @@ -4339,7 +3723,6 @@ ARIS:0000653 - @@ -4348,7 +3731,6 @@ ARIS:0000654 - @@ -4357,7 +3739,6 @@ ARIS:0000655 - @@ -4366,7 +3747,6 @@ ARIS:0000656 - @@ -4375,8 +3755,6 @@ ARIS:0000173 - - @@ -4385,12 +3763,6 @@ ARIS:0000174 - - - - - - @@ -4399,12 +3771,6 @@ ARIS:0000175 - - - - - - @@ -4413,7 +3779,6 @@ ARIS:0000176 - @@ -4422,21 +3787,6 @@ ARIS:0000177 - - - - - - - - - - - - - - - @@ -4445,7 +3795,6 @@ ARIS:0000178 - @@ -4454,7 +3803,6 @@ ARIS:0000179 - @@ -4463,12 +3811,6 @@ ARIS:0000180 - - - - - - @@ -4477,7 +3819,6 @@ ARIS:0000181 - @@ -4487,8 +3828,6 @@ Facial reddening - - @@ -4497,9 +3836,6 @@ ARIS:0000183 - - - @@ -4508,7 +3844,6 @@ ARIS:0000184 - @@ -4517,8 +3852,6 @@ ARIS:0000185 - - @@ -4527,8 +3860,6 @@ ARIS:0000186 - - @@ -4537,8 +3868,6 @@ ARIS:0000187 - - @@ -4547,7 +3876,6 @@ ARIS:0000188 - @@ -4556,8 +3884,6 @@ ARIS:0000189 - - @@ -4566,82 +3892,6 @@ ARIS:0000190 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -4650,7 +3900,6 @@ ARIS:0000191 - @@ -4659,8 +3908,6 @@ ARIS:0000192 - - @@ -4669,8 +3916,6 @@ ARIS:0000193 - - @@ -4679,7 +3924,6 @@ ARIS:0000194 - @@ -4688,7 +3932,6 @@ ARIS:0000195 - @@ -4697,51 +3940,6 @@ ARIS:0000196 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -4750,8 +3948,6 @@ ARIS:0000197 - - @@ -4760,7 +3956,6 @@ ARIS:0000198 - @@ -4769,7 +3964,6 @@ ARIS:0000199 - @@ -4778,7 +3972,6 @@ ARIS:0000200 - @@ -4787,7 +3980,6 @@ ARIS:0000201 - @@ -4796,9 +3988,6 @@ ARIS:0000202 - - - @@ -4808,9 +3997,6 @@ Flu-like prodrome - - - @@ -4819,7 +4005,6 @@ ARIS:0000204 - @@ -4828,8 +4013,6 @@ ARIS:0000205 - - @@ -4838,7 +4021,6 @@ ARIS:0000657 - @@ -4847,7 +4029,6 @@ ARIS:0000206 - @@ -4856,14 +4037,6 @@ ARIS:0000207 - - - - - - - - @@ -4872,7 +4045,6 @@ ARIS:0000208 - @@ -4881,7 +4053,6 @@ ARIS:0000209 - @@ -4890,7 +4061,6 @@ ARIS:0000210 - @@ -4899,7 +4069,6 @@ ARIS:0000211 - @@ -4908,7 +4077,6 @@ ARIS:0000212 - @@ -4917,7 +4085,6 @@ ARIS:0000213 - @@ -4926,7 +4093,6 @@ ARIS:0000658 - @@ -4935,7 +4101,6 @@ ARIS:0000214 - @@ -4944,7 +4109,6 @@ ARIS:0000215 - @@ -4954,8 +4118,6 @@ Gottron's papules / sign - - @@ -4964,7 +4126,6 @@ ARIS:0000216 - @@ -4973,7 +4134,6 @@ ARIS:0000217 - @@ -4983,15 +4143,6 @@ Alopecia - - - - - - - - - @@ -5000,9 +4151,6 @@ ARIS:0000219 - - - @@ -5011,13 +4159,6 @@ ARIS:0000220 - - - - - - - @@ -5026,7 +4167,6 @@ ARIS:0000221 - @@ -5035,8 +4175,6 @@ ARIS:0000222 - - @@ -5045,7 +4183,6 @@ ARIS:0000223 - @@ -5054,7 +4191,6 @@ ARIS:0000660 - @@ -5063,33 +4199,6 @@ ARIS:0000224 - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -5099,14 +4208,6 @@ Loss of hearing - - - - - - - - @@ -5115,7 +4216,6 @@ ARIS:0000226 - @@ -5124,8 +4224,6 @@ ARIS:0000227 - - @@ -5134,10 +4232,6 @@ ARIS:0000228 - - - - @@ -5146,7 +4240,6 @@ ARIS:0000229 - @@ -5156,13 +4249,6 @@ Prolonged menstrual bleeding - - - - - - - @@ -5171,7 +4257,6 @@ ARIS:0000661 - @@ -5180,7 +4265,6 @@ ARIS:0000231 - @@ -5189,8 +4273,6 @@ ARIS:0000232 - - @@ -5199,7 +4281,6 @@ ARIS:0000233 - @@ -5208,8 +4289,6 @@ ARIS:0000234 - - @@ -5218,7 +4297,6 @@ ARIS:0000662 - @@ -5227,7 +4305,6 @@ ARIS:0000235 - @@ -5236,7 +4313,6 @@ ARIS:0000236 - @@ -5245,9 +4321,6 @@ ARIS:0000237 - - - @@ -5256,8 +4329,6 @@ ARIS:0000238 - - @@ -5267,12 +4338,6 @@ Red or skin colored welts, can vary in size, shape and appear anywhere on the body - - - - - - @@ -5281,8 +4346,6 @@ ARIS:0000240 - - @@ -5291,7 +4354,6 @@ ARIS:0000241 - @@ -5300,9 +4362,6 @@ ARIS:0000242 - - - @@ -5311,7 +4370,6 @@ ARIS:0000663 - @@ -5320,7 +4378,6 @@ ARIS:0000664 - @@ -5329,9 +4386,6 @@ ARIS:0000243 - - - @@ -5340,7 +4394,6 @@ ARIS:0000244 - @@ -5349,7 +4402,6 @@ ARIS:0000665 - @@ -5359,8 +4411,6 @@ Hypogammaglobulinemia with recurrent sinopulmonary bacterial infections - - @@ -5369,7 +4419,6 @@ ARIS:0000667 - @@ -5378,7 +4427,6 @@ ARIS:0000668 - @@ -5387,7 +4435,6 @@ ARIS:0000669 - @@ -5396,7 +4443,6 @@ ARIS:0000670 - @@ -5405,7 +4451,6 @@ ARIS:0000671 - @@ -5414,10 +4459,6 @@ ARIS:0000245 - - - - @@ -5426,7 +4467,6 @@ ARIS:0000246 - @@ -5435,7 +4475,6 @@ ARIS:0000247 - @@ -5444,7 +4483,6 @@ ARIS:0000248 - @@ -5453,10 +4491,6 @@ ARIS:0000249 - - - - @@ -5465,8 +4499,6 @@ ARIS:0000250 - - @@ -5478,13 +4510,6 @@ Inability to conceive after ≥1 year of unprotected intercourse with normal evaluations Unable to conceive Unexplained primary or secondary infertility despite regular intercourse - - - - - - - @@ -5493,7 +4518,6 @@ ARIS:0000252 - @@ -5502,7 +4526,6 @@ ARIS:0000672 - @@ -5511,7 +4534,6 @@ ARIS:0000673 - @@ -5520,7 +4542,6 @@ ARIS:0000253 - @@ -5529,11 +4550,6 @@ ARIS:0000254 - - - - - @@ -5542,7 +4558,6 @@ ARIS:0000674 - @@ -5551,15 +4566,6 @@ ARIS:0000255 - - - - - - - - - @@ -5568,16 +4574,6 @@ ARIS:0000256 - - - - - - - - - - @@ -5586,7 +4582,6 @@ ARIS:0000257 - @@ -5595,7 +4590,6 @@ ARIS:0000258 - @@ -5605,14 +4599,6 @@ Itchy skin - - - - - - - - @@ -5621,7 +4607,6 @@ ARIS:0000260 - @@ -5630,7 +4615,6 @@ ARIS:0000261 - @@ -5639,7 +4623,6 @@ ARIS:0000262 - @@ -5648,48 +4631,6 @@ ARIS:0000263 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -5698,14 +4639,6 @@ ARIS:0000264 - - - - - - - - @@ -5714,8 +4647,6 @@ ARIS:0000265 - - @@ -5724,8 +4655,6 @@ ARIS:0000266 - - @@ -5734,7 +4663,6 @@ ARIS:0000267 - @@ -5743,7 +4671,6 @@ ARIS:0000268 - @@ -5752,7 +4679,6 @@ ARIS:0000269 - @@ -5761,7 +4687,6 @@ ARIS:0000270 - @@ -5770,7 +4695,6 @@ ARIS:0000675 - @@ -5779,7 +4703,6 @@ ARIS:0000676 - @@ -5788,7 +4711,6 @@ ARIS:0000271 - @@ -5797,7 +4719,6 @@ ARIS:0000272 - @@ -5806,9 +4727,6 @@ ARIS:0000273 - - - @@ -5817,7 +4735,6 @@ ARIS:0000274 - @@ -5826,8 +4743,6 @@ ARIS:0000275 - - @@ -5836,10 +4751,6 @@ ARIS:0000276 - - - - @@ -5848,7 +4759,6 @@ ARIS:0000677 - @@ -5858,8 +4768,6 @@ Restricted mobility - - @@ -5868,7 +4776,6 @@ ARIS:0000278 - @@ -5877,7 +4784,6 @@ ARIS:0000279 - @@ -5886,7 +4792,6 @@ ARIS:0000280 - @@ -5895,7 +4800,6 @@ ARIS:0000678 - @@ -5904,8 +4808,6 @@ ARIS:0000281 - - @@ -5914,7 +4816,6 @@ ARIS:0000282 - @@ -5923,10 +4824,6 @@ ARIS:0000283 - - - - @@ -5935,7 +4832,6 @@ ARIS:0000284 - @@ -5944,7 +4840,6 @@ ARIS:0000285 - @@ -5954,8 +4849,6 @@ Absence of eyelashes - - @@ -5964,7 +4857,6 @@ ARIS:0000287 - @@ -5973,8 +4865,6 @@ ARIS:0000288 - - @@ -5983,7 +4873,6 @@ ARIS:0000289 - @@ -5992,7 +4881,6 @@ ARIS:0000290 - @@ -6001,7 +4889,6 @@ ARIS:0000291 - @@ -6010,7 +4897,6 @@ ARIS:0000292 - @@ -6020,12 +4906,6 @@ Sensory impairment - - - - - - @@ -6034,7 +4914,6 @@ ARIS:0000294 - @@ -6043,7 +4922,6 @@ ARIS:0000295 - @@ -6068,7 +4946,6 @@ ARIS:0000298 - @@ -6077,8 +4954,6 @@ ARIS:0000299 - - @@ -6087,7 +4962,6 @@ ARIS:0000300 - @@ -6096,8 +4970,6 @@ ARIS:0000679 - - @@ -6106,12 +4978,6 @@ ARIS:0000301 - - - - - - @@ -6120,7 +4986,6 @@ ARIS:0000680 - @@ -6129,7 +4994,6 @@ ARIS:0000302 - @@ -6138,7 +5002,6 @@ ARIS:0000681 - @@ -6147,7 +5010,6 @@ ARIS:0000303 - @@ -6157,16 +5019,6 @@ Difficulty retaining information - - - - - - - - - - @@ -6175,7 +5027,6 @@ ARIS:0000305 - @@ -6184,7 +5035,6 @@ ARIS:0000306 - @@ -6193,7 +5043,6 @@ ARIS:0000307 - @@ -6203,8 +5052,6 @@ Microangiopathic hemolytic anemia with fragmented schistocytes - - @@ -6213,9 +5060,6 @@ ARIS:0000309 - - - @@ -6224,7 +5068,6 @@ ARIS:0000310 - @@ -6233,7 +5076,6 @@ ARIS:0000682 - @@ -6242,7 +5084,6 @@ ARIS:0000311 - @@ -6251,7 +5092,6 @@ ARIS:0000312 - @@ -6260,7 +5100,6 @@ ARIS:0000313 - @@ -6269,8 +5108,6 @@ ARIS:0000314 - - @@ -6279,10 +5116,6 @@ ARIS:0000315 - - - - @@ -6291,7 +5124,6 @@ ARIS:0000316 - @@ -6301,17 +5133,6 @@ Mouth ulcers - - - - - - - - - - - @@ -6320,7 +5141,6 @@ ARIS:0000318 - @@ -6329,7 +5149,6 @@ ARIS:0000683 - @@ -6338,7 +5157,6 @@ ARIS:0000319 - @@ -6347,7 +5165,6 @@ ARIS:0000684 - @@ -6356,7 +5173,6 @@ ARIS:0000320 - @@ -6365,8 +5181,6 @@ ARIS:0000321 - - @@ -6376,8 +5190,6 @@ Peripheral nerve hyperexcitability (myokymia, fasciculations, muscle cramps) - - @@ -6386,7 +5198,6 @@ ARIS:0000322 - @@ -6395,33 +5206,6 @@ ARIS:0000323 - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -6430,7 +5214,6 @@ ARIS:0000324 - @@ -6439,13 +5222,6 @@ ARIS:0000325 - - - - - - - @@ -6454,8 +5230,6 @@ ARIS:0000326 - - @@ -6464,8 +5238,6 @@ ARIS:0000327 - - @@ -6474,7 +5246,6 @@ ARIS:0000328 - @@ -6483,7 +5254,6 @@ ARIS:0000329 - @@ -6492,9 +5262,6 @@ ARIS:0000330 - - - @@ -6503,33 +5270,6 @@ ARIS:0000331 - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -6538,7 +5278,6 @@ ARIS:0000332 - @@ -6547,7 +5286,6 @@ ARIS:0000333 - @@ -6556,7 +5294,6 @@ ARIS:0000686 - @@ -6565,12 +5302,6 @@ ARIS:0000334 - - - - - - @@ -6580,8 +5311,6 @@ Increased urination at night - - @@ -6590,7 +5319,6 @@ ARIS:0000336 - @@ -6599,7 +5327,6 @@ ARIS:0000337 - @@ -6608,7 +5335,6 @@ ARIS:0000338 - @@ -6617,7 +5343,6 @@ ARIS:0000339 - @@ -6626,7 +5351,6 @@ ARIS:0000340 - @@ -6635,7 +5359,6 @@ ARIS:0000341 - @@ -6644,12 +5367,6 @@ ARIS:0000342 - - - - - - @@ -6658,15 +5375,6 @@ ARIS:0000343 - - - - - - - - - @@ -6675,7 +5383,6 @@ ARIS:0000344 - @@ -6684,7 +5391,6 @@ ARIS:0000687 - @@ -6693,7 +5399,6 @@ ARIS:0000688 - @@ -6702,7 +5407,6 @@ ARIS:0000345 - @@ -6711,7 +5415,6 @@ ARIS:0000346 - @@ -6720,7 +5423,6 @@ ARIS:0000689 - @@ -6729,7 +5431,6 @@ ARIS:0000347 - @@ -6738,7 +5439,6 @@ ARIS:0000348 - @@ -6747,7 +5447,6 @@ ARIS:0000349 - @@ -6756,108 +5455,6 @@ ARIS:0000350 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -6866,7 +5463,6 @@ ARIS:0000351 - @@ -6875,7 +5471,6 @@ ARIS:0000352 - @@ -6884,7 +5479,6 @@ ARIS:0000353 - @@ -6893,9 +5487,6 @@ ARIS:0000354 - - - @@ -6905,9 +5496,6 @@ Pain when urinating - - - @@ -6916,7 +5504,6 @@ ARIS:0000356 - @@ -6925,7 +5512,6 @@ ARIS:0000357 - @@ -6934,7 +5520,6 @@ ARIS:0000358 - @@ -6944,9 +5529,6 @@ Tendon pain - - - @@ -6955,7 +5537,6 @@ ARIS:0000360 - @@ -6964,7 +5545,6 @@ ARIS:0000361 - @@ -6973,7 +5553,6 @@ ARIS:0000362 - @@ -6982,7 +5561,6 @@ ARIS:0000363 - @@ -6991,7 +5569,6 @@ ARIS:0000364 - @@ -7000,7 +5577,6 @@ ARIS:0000365 - @@ -7009,7 +5585,6 @@ ARIS:0000366 - @@ -7018,7 +5593,6 @@ ARIS:0000367 - @@ -7027,7 +5601,6 @@ ARIS:0000368 - @@ -7036,7 +5609,6 @@ ARIS:0000690 - @@ -7045,7 +5617,6 @@ ARIS:0000369 - @@ -7054,7 +5625,6 @@ ARIS:0000691 - @@ -7063,7 +5633,6 @@ ARIS:0000370 - @@ -7072,7 +5641,6 @@ ARIS:0000371 - @@ -7081,7 +5649,6 @@ ARIS:0000372 - @@ -7090,7 +5657,6 @@ ARIS:0000373 - @@ -7099,7 +5665,6 @@ ARIS:0000374 - @@ -7108,7 +5673,6 @@ ARIS:0000375 - @@ -7117,7 +5681,6 @@ ARIS:0000376 - @@ -7126,7 +5689,6 @@ ARIS:0000692 - @@ -7135,7 +5697,6 @@ ARIS:0000693 - @@ -7144,9 +5705,6 @@ ARIS:0000377 - - - @@ -7155,7 +5713,6 @@ ARIS:0000694 - @@ -7164,7 +5721,6 @@ ARIS:0000695 - @@ -7173,7 +5729,6 @@ ARIS:0000696 - @@ -7182,7 +5737,6 @@ ARIS:0000378 - @@ -7191,10 +5745,6 @@ ARIS:0000379 - - - - @@ -7204,8 +5754,6 @@ Inability to move the eye - - @@ -7214,7 +5762,6 @@ ARIS:0000381 - @@ -7223,8 +5770,6 @@ ARIS:0000382 - - @@ -7233,7 +5778,6 @@ ARIS:0000383 - @@ -7242,8 +5786,6 @@ ARIS:0000384 - - @@ -7252,7 +5794,6 @@ ARIS:0000697 - @@ -7261,7 +5802,6 @@ ARIS:0000385 - @@ -7270,7 +5810,6 @@ ARIS:0000386 - @@ -7279,7 +5818,6 @@ ARIS:0000387 - @@ -7288,7 +5826,6 @@ ARIS:0000698 - @@ -7297,7 +5834,6 @@ ARIS:0000699 - @@ -7306,7 +5842,6 @@ ARIS:0000700 - @@ -7315,9 +5850,6 @@ ARIS:0000388 - - - @@ -7326,7 +5858,6 @@ ARIS:0000701 - @@ -7336,11 +5867,6 @@ Increased thirst - - - - - @@ -7349,7 +5875,6 @@ ARIS:0000702 - @@ -7359,8 +5884,6 @@ Increased urination - - @@ -7369,7 +5892,6 @@ ARIS:0000391 - @@ -7378,7 +5900,6 @@ ARIS:0000392 - @@ -7387,7 +5908,6 @@ ARIS:0000393 - @@ -7396,7 +5916,6 @@ ARIS:0000394 - @@ -7405,7 +5924,6 @@ ARIS:0000703 - @@ -7414,7 +5932,6 @@ ARIS:0000395 - @@ -7423,7 +5940,6 @@ ARIS:0000704 - @@ -7432,7 +5948,6 @@ ARIS:0000396 - @@ -7441,7 +5956,6 @@ ARIS:0000705 - @@ -7450,7 +5964,6 @@ ARIS:0000397 - @@ -7460,8 +5973,6 @@ Progressive exertional dyspnea and exercise limitation - - @@ -7470,7 +5981,6 @@ ARIS:0000707 - @@ -7479,7 +5989,6 @@ ARIS:0000708 - @@ -7488,7 +5997,6 @@ ARIS:0000398 - @@ -7497,7 +6005,6 @@ ARIS:0000399 - @@ -7506,7 +6013,6 @@ ARIS:0000400 - @@ -7515,7 +6021,6 @@ ARIS:0000401 - @@ -7524,7 +6029,6 @@ ARIS:0000402 - @@ -7533,8 +6037,6 @@ ARIS:0000403 - - @@ -7543,7 +6045,6 @@ ARIS:0000404 - @@ -7552,7 +6053,6 @@ ARIS:0000709 - @@ -7561,7 +6061,6 @@ ARIS:0000405 - @@ -7570,7 +6069,6 @@ ARIS:0000710 - @@ -7579,7 +6077,6 @@ ARIS:0000711 - @@ -7588,7 +6085,6 @@ ARIS:0000406 - @@ -7597,7 +6093,6 @@ ARIS:0000712 - @@ -7606,10 +6101,6 @@ ARIS:0000407 - - - - @@ -7618,7 +6109,6 @@ ARIS:0000408 - @@ -7627,7 +6117,6 @@ ARIS:0000409 - @@ -7636,7 +6125,6 @@ ARIS:0000410 - @@ -7645,7 +6133,6 @@ ARIS:0000411 - @@ -7654,7 +6141,6 @@ ARIS:0000713 - @@ -7663,7 +6149,6 @@ ARIS:0000412 - @@ -7672,7 +6157,6 @@ ARIS:0000413 - @@ -7681,7 +6165,6 @@ ARIS:0000414 - @@ -7690,7 +6173,6 @@ ARIS:0000714 - @@ -7699,16 +6181,6 @@ ARIS:0000415 - - - - - - - - - - @@ -7717,7 +6189,6 @@ ARIS:0000715 - @@ -7726,7 +6197,6 @@ ARIS:0000716 - @@ -7735,7 +6205,6 @@ ARIS:0000717 - @@ -7744,7 +6213,6 @@ ARIS:0000416 - @@ -7753,7 +6221,6 @@ ARIS:0000718 - @@ -7762,33 +6229,6 @@ ARIS:0000417 - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -7797,7 +6237,6 @@ ARIS:0000418 - @@ -7806,7 +6245,6 @@ ARIS:0000419 - @@ -7815,7 +6253,6 @@ ARIS:0000420 - @@ -7824,7 +6261,6 @@ ARIS:0000719 - @@ -7833,7 +6269,6 @@ ARIS:0000421 - @@ -7842,7 +6277,6 @@ ARIS:0000422 - @@ -7851,7 +6285,6 @@ ARIS:0000720 - @@ -7860,7 +6293,6 @@ ARIS:0000721 - @@ -7869,7 +6301,6 @@ ARIS:0000423 - @@ -7878,7 +6309,6 @@ ARIS:0000722 - @@ -7889,14 +6319,6 @@ Frequent infections Prone to infections - - - - - - - - @@ -7905,7 +6327,6 @@ ARIS:0000425 - @@ -7914,7 +6335,6 @@ ARIS:0000723 - @@ -7923,7 +6343,6 @@ ARIS:0000426 - @@ -7932,14 +6351,6 @@ ARIS:0000427 - - - - - - - - @@ -7948,7 +6359,6 @@ ARIS:0000428 - @@ -7957,7 +6367,6 @@ ARIS:0000429 - @@ -7966,7 +6375,6 @@ ARIS:0000430 - @@ -7975,7 +6383,6 @@ ARIS:0000431 - @@ -7984,10 +6391,6 @@ ARIS:0000432 - - - - @@ -7996,7 +6399,6 @@ ARIS:0000433 - @@ -8005,7 +6407,6 @@ ARIS:0000434 - @@ -8014,9 +6415,6 @@ ARIS:0000435 - - - @@ -8025,7 +6423,6 @@ ARIS:0000724 - @@ -8034,7 +6431,6 @@ ARIS:0000725 - @@ -8043,7 +6439,6 @@ ARIS:0000726 - @@ -8052,7 +6447,6 @@ ARIS:0000436 - @@ -8061,7 +6455,6 @@ ARIS:0000727 - @@ -8070,7 +6463,6 @@ ARIS:0000437 - @@ -8079,7 +6471,6 @@ ARIS:0000438 - @@ -8088,7 +6479,6 @@ ARIS:0000728 - @@ -8097,7 +6487,6 @@ ARIS:0000729 - @@ -8106,7 +6495,6 @@ ARIS:0000439 - @@ -8115,7 +6503,6 @@ ARIS:0000440 - @@ -8125,11 +6512,6 @@ Ringing in the ear - - - - - @@ -8138,7 +6520,6 @@ ARIS:0000442 - @@ -8147,7 +6528,6 @@ ARIS:0000443 - @@ -8156,7 +6536,6 @@ ARIS:0000444 - @@ -8165,7 +6544,6 @@ ARIS:0000445 - @@ -8174,7 +6552,6 @@ ARIS:0000446 - @@ -8183,7 +6560,6 @@ ARIS:0000447 - @@ -8192,7 +6568,6 @@ ARIS:0000448 - @@ -8201,8 +6576,6 @@ ARIS:0000449 - - @@ -8211,7 +6584,6 @@ ARIS:0000450 - @@ -8221,8 +6593,6 @@ Apparent flashes of light - - @@ -8231,7 +6601,6 @@ ARIS:0000452 - @@ -8240,7 +6609,6 @@ ARIS:0000453 - @@ -8249,21 +6617,6 @@ ARIS:0000454 - - - - - - - - - - - - - - - @@ -8272,8 +6625,6 @@ ARIS:0000455 - - @@ -8282,7 +6633,6 @@ ARIS:0000456 - @@ -8291,19 +6641,6 @@ ARIS:0000457 - - - - - - - - - - - - - @@ -8312,7 +6649,6 @@ ARIS:0000458 - @@ -8321,7 +6657,6 @@ ARIS:0000730 - @@ -8330,7 +6665,6 @@ ARIS:0000459 - @@ -8339,7 +6673,6 @@ ARIS:0000731 - @@ -8348,7 +6681,6 @@ ARIS:0000732 - @@ -8357,7 +6689,6 @@ ARIS:0000460 - @@ -8366,7 +6697,6 @@ ARIS:0000733 - @@ -8375,7 +6705,6 @@ ARIS:0000734 - @@ -8385,8 +6714,6 @@ Severe neck flexor weakness and prominent dysphagia - - @@ -8395,7 +6722,6 @@ ARIS:0000736 - @@ -8404,7 +6730,6 @@ ARIS:0000737 - @@ -8413,7 +6738,6 @@ ARIS:0000738 - @@ -8422,8 +6746,6 @@ ARIS:0000461 - - @@ -8432,7 +6754,6 @@ ARIS:0000462 - @@ -8441,7 +6762,6 @@ ARIS:0000739 - @@ -8450,7 +6770,6 @@ ARIS:0000740 - @@ -8459,7 +6778,6 @@ ARIS:0000463 - @@ -8469,8 +6787,6 @@ Symmetrical proximal muscle weakness - - @@ -8479,7 +6795,6 @@ ARIS:0000742 - @@ -8488,7 +6803,6 @@ ARIS:0000464 - @@ -8497,7 +6811,6 @@ ARIS:0000465 - @@ -8506,7 +6819,6 @@ ARIS:0000466 - @@ -8515,7 +6827,6 @@ ARIS:0000743 - @@ -8524,7 +6835,6 @@ ARIS:0000744 - @@ -8533,7 +6843,6 @@ ARIS:0000467 - @@ -8542,7 +6851,6 @@ ARIS:0000745 - @@ -8551,7 +6859,6 @@ ARIS:0000746 - @@ -8560,7 +6867,6 @@ ARIS:0000747 - @@ -8569,7 +6875,6 @@ ARIS:0000468 - @@ -8578,7 +6883,6 @@ ARIS:0000469 - @@ -8588,53 +6892,6 @@ Difficulty breathing - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -8644,8 +6901,6 @@ Trouble breathing when you exercise - - @@ -8654,8 +6909,6 @@ ARIS:0000472 - - @@ -8664,7 +6917,6 @@ ARIS:0000748 - @@ -8673,7 +6925,6 @@ ARIS:0000473 - @@ -8682,7 +6933,6 @@ ARIS:0000749 - @@ -8692,8 +6942,6 @@ Sinus inflammation - - @@ -8702,18 +6950,6 @@ ARIS:0000475 - - - - - - - - - - - - @@ -8722,7 +6958,6 @@ ARIS:0000476 - @@ -8732,9 +6967,6 @@ Skin stiffening - - - @@ -8743,7 +6975,6 @@ ARIS:0000478 - @@ -8752,7 +6983,6 @@ ARIS:0000479 - @@ -8761,10 +6991,6 @@ ARIS:0000480 - - - - @@ -8774,14 +7000,6 @@ skin sores - - - - - - - - @@ -8790,7 +7008,6 @@ ARIS:0000482 - @@ -8799,9 +7016,6 @@ ARIS:0000483 - - - @@ -8810,7 +7024,6 @@ ARIS:0000484 - @@ -8819,17 +7032,6 @@ ARIS:0000485 - - - - - - - - - - - @@ -8838,7 +7040,6 @@ ARIS:0000750 - @@ -8847,7 +7048,6 @@ ARIS:0000486 - @@ -8856,7 +7056,6 @@ ARIS:0000487 - @@ -8865,7 +7064,6 @@ ARIS:0000488 - @@ -8874,7 +7072,6 @@ ARIS:0000489 - @@ -8883,7 +7080,6 @@ ARIS:0000490 - @@ -8892,7 +7088,6 @@ ARIS:0000491 - @@ -8901,7 +7096,6 @@ ARIS:0000492 - @@ -8911,10 +7105,6 @@ Throat pain - - - - @@ -8923,7 +7113,6 @@ ARIS:0000494 - @@ -8932,7 +7121,6 @@ ARIS:0000495 - @@ -8941,7 +7129,6 @@ ARIS:0000496 - @@ -8950,7 +7137,6 @@ ARIS:0000497 - @@ -8958,26 +7144,6 @@ Stiffness ARIS:0000498 - - - - - - - - - - - - - - - - - - - - @@ -8986,7 +7152,6 @@ ARIS:0000499 - @@ -8996,8 +7161,6 @@ Tightness of the skin of the fingers - - @@ -9006,8 +7169,6 @@ ARIS:0000501 - - @@ -9016,7 +7177,6 @@ ARIS:0000502 - @@ -9025,7 +7185,6 @@ ARIS:0000503 - @@ -9034,7 +7193,6 @@ ARIS:0000751 - @@ -9043,7 +7201,6 @@ ARIS:0000504 - @@ -9052,7 +7209,6 @@ ARIS:0000752 - @@ -9060,41 +7216,6 @@ Swelling ARIS:0000505 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -9103,7 +7224,6 @@ ARIS:0000506 - @@ -9112,7 +7232,6 @@ ARIS:0000507 - @@ -9121,7 +7240,6 @@ ARIS:0000508 - @@ -9130,10 +7248,6 @@ ARIS:0000509 - - - - @@ -9142,7 +7256,6 @@ ARIS:0000510 - @@ -9151,11 +7264,6 @@ ARIS:0000511 - - - - - @@ -9164,7 +7272,6 @@ ARIS:0000512 - @@ -9173,8 +7280,6 @@ ARIS:0000513 - - @@ -9183,15 +7288,6 @@ ARIS:0000514 - - - - - - - - - @@ -9200,7 +7296,6 @@ ARIS:0000515 - @@ -9209,13 +7304,6 @@ ARIS:0000516 - - - - - - - @@ -9224,7 +7312,6 @@ ARIS:0000517 - @@ -9233,7 +7320,6 @@ ARIS:0000518 - @@ -9242,16 +7328,6 @@ ARIS:0000519 - - - - - - - - - - @@ -9260,8 +7336,6 @@ ARIS:0000520 - - @@ -9270,9 +7344,6 @@ ARIS:0000521 - - - @@ -9281,8 +7352,6 @@ ARIS:0000522 - - @@ -9291,7 +7360,6 @@ ARIS:0000523 - @@ -9300,7 +7368,6 @@ ARIS:0000524 - @@ -9309,7 +7376,6 @@ ARIS:0000525 - @@ -9318,8 +7384,6 @@ ARIS:0000526 - - @@ -9328,7 +7392,6 @@ ARIS:0000527 - @@ -9337,7 +7400,6 @@ ARIS:0000528 - @@ -9346,7 +7408,6 @@ ARIS:0000529 - @@ -9355,7 +7416,6 @@ ARIS:0000753 - @@ -9364,7 +7424,6 @@ ARIS:0000754 - @@ -9373,7 +7432,6 @@ ARIS:0000755 - @@ -9382,14 +7440,6 @@ ARIS:0000530 - - - - - - - - @@ -9398,7 +7448,6 @@ ARIS:0000531 - @@ -9407,7 +7456,6 @@ ARIS:0000532 - @@ -9416,7 +7464,6 @@ ARIS:0000533 - @@ -9425,7 +7472,6 @@ ARIS:0000534 - @@ -9434,7 +7480,6 @@ ARIS:0000535 - @@ -9443,7 +7488,6 @@ ARIS:0000536 - @@ -9452,7 +7496,6 @@ ARIS:0000537 - @@ -9461,7 +7504,6 @@ ARIS:0000538 - @@ -9470,7 +7512,6 @@ ARIS:0000539 - @@ -9479,7 +7520,6 @@ ARIS:0000540 - @@ -9488,7 +7528,6 @@ ARIS:0000541 - @@ -9497,7 +7536,6 @@ ARIS:0000542 - @@ -9507,21 +7545,6 @@ Prickling sensations - - - - - - - - - - - - - - - @@ -9530,7 +7553,6 @@ ARIS:0000544 - @@ -9539,8 +7561,6 @@ ARIS:0000545 - - @@ -9549,7 +7569,6 @@ ARIS:0000546 - @@ -9558,7 +7577,6 @@ ARIS:0000547 - @@ -9567,7 +7585,6 @@ ARIS:0000548 - @@ -9576,7 +7593,6 @@ ARIS:0000549 - @@ -9585,9 +7601,6 @@ ARIS:0000550 - - - @@ -9596,7 +7609,6 @@ ARIS:0000551 - @@ -9605,7 +7617,6 @@ ARIS:0000756 - @@ -9614,7 +7625,6 @@ ARIS:0000552 - @@ -9623,7 +7633,6 @@ ARIS:0000757 - @@ -9632,7 +7641,6 @@ ARIS:0000758 - @@ -9641,10 +7649,6 @@ ARIS:0000553 - - - - @@ -9653,7 +7657,6 @@ ARIS:0000759 - @@ -9662,7 +7665,6 @@ ARIS:0000554 - @@ -9671,7 +7673,6 @@ ARIS:0000555 - @@ -9680,17 +7681,6 @@ ARIS:0000556 - - - - - - - - - - - @@ -9699,7 +7689,6 @@ ARIS:0000760 - @@ -9708,7 +7697,6 @@ ARIS:0000557 - @@ -9717,7 +7705,6 @@ ARIS:0000558 - @@ -9726,7 +7713,6 @@ ARIS:0000559 - @@ -9735,7 +7721,6 @@ ARIS:0000560 - @@ -9744,7 +7729,6 @@ ARIS:0000561 - @@ -9753,9 +7737,6 @@ ARIS:0000562 - - - @@ -9764,7 +7745,6 @@ ARIS:0000563 - @@ -9773,17 +7753,6 @@ ARIS:0000564 - - - - - - - - - - - @@ -9792,45 +7761,6 @@ ARIS:0000565 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -9839,7 +7769,6 @@ ARIS:0000761 - @@ -9848,7 +7777,6 @@ ARIS:0000762 - @@ -9857,7 +7785,6 @@ ARIS:0000566 - @@ -9867,8 +7794,6 @@ Vitreous floaters and hazy vision - - @@ -9877,7 +7802,6 @@ ARIS:0000567 - @@ -9886,32 +7810,6 @@ ARIS:0000568 - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -9920,7 +7818,6 @@ ARIS:0000569 - @@ -9929,13 +7826,6 @@ ARIS:0000570 - - - - - - - @@ -9944,53 +7834,6 @@ ARIS:0000571 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -9999,9 +7842,6 @@ ARIS:0000572 - - - @@ -10010,7 +7850,6 @@ ARIS:0000573 - @@ -10019,7 +7858,6 @@ ARIS:0000574 - @@ -10028,9 +7866,6 @@ ARIS:0000575 - - - @@ -10039,7 +7874,6 @@ ARIS:0000576 - @@ -10048,7 +7882,6 @@ ARIS:0000577 - @@ -10057,12 +7890,6 @@ ARIS:0000578 - - - - - - @@ -10071,7 +7898,6 @@ ARIS:0000579 - @@ -10080,7 +7906,6 @@ ARIS:0000580 - @@ -10089,10 +7914,6 @@ ARIS:0000581 - - - - @@ -10101,50 +7922,6 @@ ARIS:0000582 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -10153,7 +7930,6 @@ ARIS:0000764 - @@ -10162,8 +7938,6 @@ ARIS:0000583 - - @@ -10172,7 +7946,6 @@ ARIS:0000584 - @@ -10181,7 +7954,6 @@ ARIS:0000585 - @@ -10190,7 +7962,6 @@ ARIS:0000586 - @@ -10199,7 +7970,6 @@ ARIS:0000587 - @@ -10208,7 +7978,6 @@ ARIS:0000588 - @@ -10217,7 +7986,6 @@ ARIS:0000589 - @@ -10226,7 +7994,6 @@ ARIS:0000590 - @@ -10235,7 +8002,6 @@ ARIS:0000765 - @@ -10244,7 +8010,6 @@ ARIS:0000591 - @@ -10253,8 +8018,6 @@ ARIS:0000592 - - @@ -10263,7 +8026,6 @@ ARIS:0000593 - @@ -10272,12 +8034,6 @@ ARIS:0000594 - - - - - - @@ -10286,13 +8042,6 @@ ARIS:0000595 - - - - - - - @@ -10301,7 +8050,6 @@ ARIS:0000596 - diff --git a/notebook/symptom-mapping/build_symptom_mapping.py b/notebook/symptom-mapping/build_symptom_mapping.py index ba5465f..55d699d 100644 --- a/notebook/symptom-mapping/build_symptom_mapping.py +++ b/notebook/symptom-mapping/build_symptom_mapping.py @@ -17,12 +17,14 @@ - Symptoms sheet of report 4: mapping and parent columns after the existing ones - Symptom Mapping sheet of report 4: one row per symptom string - ari_symptoms.owl next to this script: a class per mapped symptom under the referenced SYMP terms + - symptomConcept on every Symptom individual in ontologies/ari_t1d.owl: the ari_symptoms.owl class + its label maps to (the Merged Into row's class for a merged label, none for "not a symptom") Usage: python build_symptom_mapping.py The database folder is not tracked in git, so pass the path of a checkout holding symp.owl (http://purl.obolibrary.org/obo/symp.owl) and hp.obo (http://purl.obolibrary.org/obo/hp.obo). """ -import collections, csv, os, sys +import collections, csv, os, re, sys import xml.etree.ElementTree as ET from xml.sax.saxutils import escape, quoteattr @@ -60,6 +62,10 @@ def obo_iri(curie): return OBO + curie.replace(":", "_") +def aris_iri(symptom_id): + return f"{BASE}#{symptom_id.replace(':', '_')}" + + def read_symp(path): """SYMP CURIE -> (label, [parent CURIEs]) for every non-obsolete term, and the release IRI.""" root = ET.parse(path).getroot() @@ -243,21 +249,16 @@ def resource(tag, iri): return f" <{tag} rdf:resource={quoteattr(iri)}/>\n" -def write_owl(rows, by_name, symp, versions, individuals): +def write_owl(rows, by_name, symp, versions): """A class per exact or broader row, under its parent; SYMP terms it references, with their ancestors.""" def iri(row_id): - return obo_iri(row_id) if row_id.startswith("SYMP:") else f"{BASE}#{row_id.replace(':', '_')}" + return obo_iri(row_id) if row_id.startswith("SYMP:") else aris_iri(row_id) concepts = [r for r in rows if r["Mapping"] in MAPPED] alt_labels = collections.defaultdict(list) for r in rows: if r["Merged Into"]: alt_labels[r["Merged Into"]].append(r["Symptom"]) - ind_by_label = collections.defaultdict(list) - for ind, label in individuals.items(): - r = by_name[label] - ind_by_label[r["Merged Into"] or label].append(ARI_BASE + ind) - needed, stack = set(), [r["SYMP ID"] for r in concepts] while stack: curie = stack.pop() @@ -280,18 +281,15 @@ def iri(row_id): "and the Human Phenotype Ontology (HPO) for ARI#132, generated from " "notebook/symptom-mapping/symptom_mapping.tsv. skos:exactMatch names a SYMP or HPO term with the " "same meaning, skos:broadMatch the nearest broader one. Strings merged into a " - "symptom are skos:altLabel. ariSymptomIndividual links the Symptom individuals in " - "ontologies/ari_t1d.owl that carry the symptom. SYMP classes are copied with their labels and " + "symptom are skos:altLabel. The Symptom individuals in ontologies/ari_t1d.owl point at their " + "class with symptomConcept. SYMP classes are copied with their labels and " "is_a parents only; HPO terms are referenced by IRI.\n" + "".join(f' \n' for v in versions) + "\n\n" '\n' '\n' '\n' - '\n' - '\n' - " ARI symptom individual\n" - "\n\n" + '\n\n' ] for curie in sorted(needed): out.append(f"\n") @@ -307,7 +305,6 @@ def iri(row_id): if curie: out.append(resource("skos:exactMatch" if mapping == "exact" else "skos:broadMatch", obo_iri(curie))) out.extend(literal("skos:altLabel", a) for a in sorted(alt_labels[r["Symptom"]])) - out.extend(resource("ariSymptomIndividual", i) for i in sorted(ind_by_label[r["Symptom"]])) out.extend(resource("rdfs:subClassOf", iri(p[1])) for p in parents_of(r, by_name, symp)) out.append("\n\n") out.append("\n") @@ -316,6 +313,38 @@ def iri(row_id): return len(concepts), len(needed) +def write_ontology_links(by_name, individuals): + """Set symptomConcept on every Symptom individual in ari_t1d.owl from its label's row. + + Edits the file line by line so nothing else in it moves: a symptomConcept line inside a Symptom + individual is dropped, and the one its label maps to is written after its rdfs:label. + """ + text = open(ONTOLOGY, encoding="utf-8", newline="").read() + if '' not in text: + raise SystemExit(f"{ONTOLOGY} does not declare the symptomConcept annotation property") + opening = re.compile(r'<[\w:]+ rdf:about="(#[^"]+)">') + out, current, linked = [], None, 0 + for line in text.splitlines(keepends=True): + match = opening.match(line) + if match and match.group(1) in individuals: + current = match.group(1) + elif current and line.startswith("{ending}') + linked += 1 + with open(ONTOLOGY, "w", encoding="utf-8", newline="") as f: + f.write("".join(out)) + return linked + + def main(): if len(sys.argv) != 2: raise SystemExit(__doc__) @@ -332,13 +361,15 @@ def main(): raise SystemExit(f"{len(missing)} symptoms have no row in symptom_mapping.tsv: {missing}") write_report(by_name, symp, ontology_diseases) - classes, symp_classes = write_owl(rows, by_name, symp, [symp_version, hp_version], individuals) + classes, symp_classes = write_owl(rows, by_name, symp, [symp_version, hp_version]) + linked = write_ontology_links(by_name, individuals) counts = collections.Counter(r["Mapping"] for r in rows) print(f"{len(rows)} symptom strings: " + ", ".join(f"{n} {k}" for k, n in sorted(counts.items()))) hpo = collections.Counter(r["HPO Mapping"] for r in rows if r["HPO Mapping"]) print("HPO: " + ", ".join(f"{n} {k}" for k, n in sorted(hpo.items()))) print(f"{sum(1 for r in rows if r['Parent Symptom'])} grouped under an ARI parent symptom") print(f"{classes} ARI symptom classes, {symp_classes} SYMP classes -> {OUT}") + print(f"{linked} of {len(individuals)} Symptom individuals linked by symptomConcept -> {ONTOLOGY}") if __name__ == "__main__": diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index a6c9499..8c5ee2a 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -254,6 +254,11 @@ + + symptom concept + The shared ARI symptom (an ARIS class in notebook/symptom-mapping/ari_symptoms.owl) that this per-disease Symptom individual is. Written by notebook/symptom-mapping/build_symptom_mapping.py from the curated symptom_mapping.tsv, keyed by the individual's label. + + UBERON:0010000 @@ -749,6 +754,7 @@ Polyuria + Very common (>=90%) Excessive urination due to osmotic diuresis from hyperglycemia HP:0100626 @@ -759,6 +765,7 @@ Polydipsia + Very common (>=90%) Excessive thirst caused by dehydration from osmotic diuresis HP:0100627 @@ -769,6 +776,7 @@ Unintended weight loss + Common (60-80%) Weight loss despite normal/increased appetite HP:0001824 @@ -779,6 +787,7 @@ Fatigue + Common (60-80%) Chronic tiredness from metabolic dysregulation HP:0012378 @@ -789,6 +798,7 @@ Blurred vision + Moderate (20-40%) Lens swelling due to hyperglycemia HP:0025147 @@ -799,6 +809,7 @@ Diabetic ketoacidosis (DKA) + Variable (25-40%) Metabolic decompensation with ketone production HP:0001953 @@ -809,6 +820,7 @@ Recurrent infections + Moderate Increased susceptibility to skin, UT, and yeast infections HP:0002718 @@ -819,6 +831,7 @@ Nocturia + Moderate (30-50%) Nighttime urination from impaired renal concentrating ability HP:0000017 @@ -829,6 +842,7 @@ Irritability / mood changes + Common (40-60%) Behavioral changes from hyperglycemia HP:0000737 @@ -839,6 +853,7 @@ Increased appetite (polyphagia) + Common (50-70%) Excessive hunger despite high blood glucose HP:0002591 @@ -1698,6 +1713,7 @@ Polydipsia + HP:0100627 https://pubmed.ncbi.nlm.nih.gov/26494507/ Common (50-70%) @@ -1708,6 +1724,7 @@ Gradual weight loss + HP:0001824 https://pubmed.ncbi.nlm.nih.gov/26494507/ Moderate @@ -1775,6 +1792,7 @@ Fulminant ketoacidosis + Very common (>=90%) Severe DKA within days of symptom onset HP:0001953 @@ -1785,6 +1803,7 @@ Flu-like prodrome + Common (70%) Preceding viral-like illness before abrupt onset HP:0033273 @@ -1884,18 +1903,21 @@ Blisters + false Blisters on various mucous membranes + false Widespread blisters that are not localized to trauma-prone sites + false @@ -1914,18 +1936,21 @@ Mucous-membrane blisters that rupture easily + false Scarring + false When blisters heal they form scars and sometimes tiny white bumps + false @@ -1944,12 +1969,14 @@ Tense, blood- or pus-filled blisters, mostly on the hands, knees, knuckles, elbows and ankles + false Widespread redness and itching + false @@ -2053,48 +2080,56 @@ Swelling + false Blood in stool + false Blood in urine + false Easy bruising + false Urogenital bleeding + false Excessive bleeding + false Nosebleeds + false Solid swellings of congealed blood + false @@ -2198,78 +2233,91 @@ Vision problems + false Weakness in legs + false Weakness in arms + false Confusion + false Drowsiness + false Unsteadiness + false Falling + false Blurred vision + false Double vision, horizontal or vertical, that improves when one eye is closed + false Difficulty swallowing + false Seizures + false Weakness + false Double vision + false @@ -2377,114 +2425,133 @@ The cause of Kawasaki's Disease is uncertain but is believed to be autoimmune. Swelling + false Pain + false Irregular heartbeat + false Peeling skin + false Joint pain + false Hearing loss + false Vomiting + false Diarrhea + false Abdominal pain + false Fever + false Red eyes + false Swollen feet + false Swollen hands + false Skin discoloration + false Red, dry, cracked, and swollen lips + false Rash on groin + false Rash on torso + false Swollen tongue that looks shiny and bright with red spots + false Rash + false @@ -2566,24 +2633,28 @@ The cause of Kawasaki's Disease is uncertain but is believed to be autoimmune. Bumps on skin containing pus + false Bumps on skin containing blood + false Red patches that quickly turn into small bumps 5-15 mm in diameter + false Red patches may be covered with a fine shiny scale + false @@ -2698,108 +2769,126 @@ The cause of Kawasaki's Disease is uncertain but is believed to be autoimmune. Pain + false Joint pain + false Abdominal pain + false Muscle pain + false Weakness + false Fatigue + false Weight loss + false Hyperpigmentation + false Salt craving + false Nausea + false Diarrhea + false Vomiting + false Irritability + false Depression + false Body hair loss + false Sexual dysfunction + false Mouth sores + false Fainting + false @@ -2962,96 +3051,112 @@ The cause of Kawasaki's Disease is uncertain but is believed to be autoimmune. Swelling + false Pain + false Joint pain + false Joint stiffness + false A salmon/pink-colored rash on chest and thighs during fever + false Sore throat + false Difficulty breathing + false Stiffness + false Muscle pain + false Weight loss + false Swelling in armpits + false Swelling in neck + false Fever + false Abdominal pain + false Swollen joints + false Rash + false @@ -3125,24 +3230,28 @@ However, based on the research available at this time, there is no evidence that Vision problems + false Blurred vision + false Dark spots in vision + false Hard to read fine print, drive, or recognize faces + false @@ -3232,36 +3341,42 @@ However, based on the research available at this time, there is no evidence that Beard hair loss + false Eyebrow hair loss + false Loss of eyelashes + false Scalp hair loss + false Hair loss + false Fingernails and toenails have dents, white spots, and roughness + false @@ -3359,90 +3474,105 @@ However, based on the research available at this time, there is no evidence that Swelling + false Weakness + false Weakness in hands + false Loss of feeling in hands + false Weight loss + false Abnormal lumps below skin + false A feeling of fullness or pressure in the chest or abdomen that can cause difficulty breathing or eating + false Cough + false Vomiting + false Fever + false Night sweats + false Nausea + false Fatigue + false Swollen feet + false Swollen ankles + false @@ -3542,102 +3672,119 @@ However, based on the research available at this time, there is no evidence that Pain + false Pain in tendons + false Heel stiffness + false Weight loss + false Heel pain + false Lower back stiffness + false Pain in ligaments + false Eye inflammation + false Hip stiffness + false Hip pain + false Fever + false Fatigue + false Difficulty breathing + false Pain in buttocks + false Back pain + false Stiffness of the buttocks + false Stiffness + false @@ -3739,54 +3886,63 @@ However, based on the research available at this time, there is no evidence that Pain + false Burning + false Fatigue + false Difficulty breathing + false Vomiting + false Nausea + false Burning feeling when urinating + false Chest pain + false Weakness + false @@ -4005,54 +4161,63 @@ However, based on the research available at this time, there is no evidence that Weakness + false Fever + false Weight loss + false Night sweats + false Headache + false Numbness + false Pain + false Fatigue + false Rash + false @@ -4149,24 +4314,28 @@ There's no cure for antiphospholipid syndrome, but medications can reduce the ri Rash + false Deep vein thrombosis + false Miscarriages + false Stillbirths + false @@ -4263,60 +4432,70 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit Pain + false Joint pain + false Bluish coloring of hands/feet + false Cough + false Foot pain + false Muscle pain + false Shortness of breath + false Fever + false Thickened skin of fingers + false Weight loss + false @@ -4490,78 +4669,91 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit Irregular heartbeat + false Rash + false Rapid heartbeat + false Frequent infections + false Easy bruising + false Fatigue + false Shortness of breath with exertion + false Pale skin + false Nosebleeds + false Bleeding gums + false Prolonged bleeding from cuts + false Dizziness + false Headache + false @@ -4691,48 +4883,56 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit Swelling + false Swollen lips + false Swollen hands + false Swollen feet + false Nausea + false Vomiting + false Pain + false Difficulty breathing + false @@ -4919,24 +5119,28 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit Hearing loss that may fluctuate, particularly early in the course of the disease + false Ringing in the ear + false Feeling of fullness in the ear + false Vertigo + false @@ -5046,66 +5250,77 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit Seizures + false Vision problems + false Euphoria + false Fear + false Panic attacks + false Compulsive behavior + false Unsteady gait + false Cognitive impairment + false Abnormal movement + false Memory problems + false Psychosis + false @@ -5215,84 +5430,98 @@ When the NMDA receptor antibodies attack the NMDA receptors in the brain, certai Fever + false Nausea + false Fatigue + false Anxiety + false Confusion + false Hallucinations + false Aggression + false Paranoid delusions + false Difficulty speaking + false Memory problems + false Mood changes + false Seizures + false Stiffness + false Sleep problems + false @@ -5459,78 +5688,91 @@ When the NMDA receptor antibodies attack the NMDA receptors in the brain, certai Pain + false Burning + false Abdominal bloating + false Indigestion + false Acid reflux/heartburn + false Hiccups + false Nausea + false Vomiting + false Weakness + false Fatigue + false Feeling full quickly after eating + false Gnawing ache in the upper abdomen that may become better or worse with eating + false Burning pain in the upper abdomen that may become better or worse with eating + false @@ -5615,60 +5857,70 @@ When the NMDA receptor antibodies attack the NMDA receptors in the brain, certai Pain + false Weakness + false Muscle pain + false Fatigue + false Difficulty breathing + false Shortness of breath + false Headache + false Dizziness + false Rapid heartbeat + false Chills + false @@ -5776,78 +6028,91 @@ When the NMDA receptor antibodies attack the NMDA receptors in the brain, certai Pain + false Diarrhea + false Joint pain + false Rash + false Fatigue + false Muscle pain + false Edema + false Abnormal skin blood vessels + false Dark urine + false Nausea + false Vomiting + false Abdominal pain + false Yellow eyes + false @@ -6165,24 +6430,28 @@ When the NMDA receptor antibodies attack the NMDA receptors in the brain, certai Low blood counts + false Fatigue + false Yellow skin + false Frequent infections + false @@ -6327,48 +6596,56 @@ In chronic autoimmune neutropenia the body produces IgG antibodies that target a Frequent infections + false Mouth ulcers + false Inflammation of the gums + false Sore throat + false Chest infections + false Diarrhea + false Chills + false Fatigue + false @@ -6457,102 +6734,119 @@ In chronic autoimmune neutropenia the body produces IgG antibodies that target a Pain + false Abdominal cramps + false Burning feeling when urinating + false Absent menstrual period + false Pain during urination + false Pelvic pain + false Infertility + false Bleeding between menstrual cycles + false Pain during sexual intercourse + false Heavy vaginal discharge that has a foul odor + false Difficulty urinating + false Abdominal bloating + false Nausea + false Vomiting + false Fever + false Chills + false Burning + false @@ -6715,72 +7009,84 @@ In chronic autoimmune neutropenia the body produces IgG antibodies that target a Pain + false Weight loss + false Vomiting + false Yellow eyes + false Loose fatty stools that do not flush easily + false Nausea + false Abdominal pain + false Yellow skin + false Fatigue + false Back pain + false Diarrhea + false Shortness of breath + false @@ -6793,6 +7099,7 @@ In chronic autoimmune neutropenia the body produces IgG antibodies that target a Increased thirst + false @@ -6860,48 +7167,56 @@ In chronic autoimmune neutropenia the body produces IgG antibodies that target a Swelling + false Hives + false Spots + false Swelling beneath the skin + false Eczema-like rash + false Circular rash + false Mouth sores + false Rash + false @@ -7103,24 +7418,28 @@ In chronic autoimmune neutropenia the body produces IgG antibodies that target a Apparent flashes of light + false Vision loss + false Vision problems + false Loss of low-light vision + false @@ -7272,150 +7591,175 @@ Several names are used for autoimmune thyroiditis. When it is known to be autoim Pain + false Stiffness + false Joint pain + false Heavy menstrual flow + false Muscle pain + false Sensitivity to extreme cold + false Tenderness + false Hip stiffness + false Brittle fingernails + false Memory problems + false Loss of feeling in feet + false Loss of feeling in hands + false Hoarseness + false Fatigue + false Constipation + false Pale skin + false Dry skin + false Hair loss + false Weight gain + false Depression + false Sluggishness + false Decreased sweating + false Galactorrhea + false Muscle cramps + false Daytime sleepiness + false @@ -7509,18 +7853,21 @@ Urticaria can also be caused by allergic reaction to plants like poison ivy, dye Swelling + false Red or skin colored welts, can vary in size, shape and appear anywhere on the body + false Severe itching + false @@ -7533,12 +7880,14 @@ Urticaria can also be caused by allergic reaction to plants like poison ivy, dye Swollen lips + false Difficulty breathing + false @@ -7711,108 +8060,126 @@ There are many types of vasculitis, and most of them are rare. Vasculitis might Pain + false Dizziness + false Ringing in ears + false Hearing loss + false Redness + false Numbness + false Dark urine + false Rash + false Cough + false Difficulty breathing + false Tingling + false Fever + false Fatigue + false Malaise + false Weight loss + false Joint pain + false Abdominal pain + false Blood in urine + false @@ -7897,42 +8264,49 @@ There are many types of vasculitis, and most of them are rare. Vasculitis might Muscle spasms + false Paralysis + false Seizures + false Cognitive impairment + false Difficulty understanding speech + false Fever + false Difficulty speaking + false @@ -8049,138 +8423,161 @@ This disease is not well understood but is believed to be autoimmune in nature s Swelling + false Pain + false Headache + false Weakness in facial muscles + false Throat muscle weakness + false Blurred vision + false Unsteady gait + false Swollen legs + false Leg pain + false Mouth ulcers + false Eye pain + false Arm pain + false Raised and tender/painful nodules on the skin, especially on the lower legs + false Painful genital sores + false Joint pain + false Skin pain + false Abdominal pain + false Diarrhea + false Fever + false Disorientation + false Eye inflammation + false Vision problems + false Weakness + false @@ -8276,66 +8673,77 @@ Cicatricial pemphigoid is usually not chronic, and most patients symptoms disapp Pain + false Seizures + false Eye sensitivity + false Blisters + false Eye inflammation + false Blindness + false Weight loss + false Pain when urinating + false Itching + false Painful and sensitive blisters that are ruptured + false Lesions + false @@ -8554,48 +8962,56 @@ Cicatricial pemphigoid is usually not chronic, and most patients symptoms disapp Blisters + false Difficulty swallowing + false Large blisters on lower abdomen, groin, upper thighs and arms that don't easily rupture when touched + false Blisters in infants + false Blister inside mouth + false Hives + false Blisters on eyes + false Wart-like plaques on areas of the skin, such as the armpit, neck, groin, and breasts + false @@ -8608,6 +9024,7 @@ Cicatricial pemphigoid is usually not chronic, and most patients symptoms disapp In childhood-onset bullous pemphigoid associated with vaccination, the bullous lesions predominantly affect the palms, soles, and face + false @@ -8873,30 +9290,35 @@ The first reports of narcolepsy being an autoimmune disease came in 2013, but re Daytime sleepiness + false Weakness + false Sleep problems + false Paralysis while falling asleep or upon waking up + false Vivid, dream-like experiences when falling asleep or upon waking up + false @@ -9076,192 +9498,224 @@ CD is generally treated by eliminating gluten from the diet. Patients with an e Swelling + false Pain + false Delayed puberty + false Damage to dental enamel + false Behavioral changes + false Joint pain + false Abdominal pain + false Headache + false Swollen hands + false Bone pain + false Swollen feet + false Miscarriages + false Infertility + false Heavy menstrual flow + false Fatigue + false Weakness + false Bloating + false Gas + false Acid reflux/heartburn + false Nausea + false Vomiting + false Diarrhea + false Constipation + false Lactose intolerance + false Weight loss + false Easy bruising + false Depression + false Canker sores + false Irritability + false Learning disability + false Short stature + false Failure to thrive + false @@ -9389,24 +9843,28 @@ The cause of this syndrome is unknown, however, researchers believe that it may Dizziness + false Pain + false Fatigue + false Sleep problems + false @@ -9419,6 +9877,7 @@ The cause of this syndrome is unknown, however, researchers believe that it may Malaise + false @@ -9547,54 +10006,63 @@ The cause of this syndrome is unknown, however, researchers believe that it may Double vision + false Weakness in hip + false Unsteady gait + false Reduced reflexes + false Weakness in hands + false Pain + false Weakness in feet + false Vision problems + false Weakness + false @@ -9721,54 +10189,63 @@ Currently, the cause of interstitial cystitis is unknown. There are two main the Pain + false Increased frequency of urination + false Bladder pain + false Pain or discomfort while the bladder fills and relief after urinating + false Abdominal pain + false Pain during sexual intercourse + false Vaginal pain + false Penis pain + false Testicle pain + false @@ -9902,138 +10379,161 @@ However, in some people, the Lyme disease triggers symptoms similar to rheumatoi Pain + false Rash + false Fever + false Chills + false Fatigue + false Muscle pain + false Headache + false Joint pain + false Facial paralysis + false Weakness in facial muscles + false Sleep problems + false Malaise + false Heart palpitations + false Decreased movement + false Concentration loss + false Numbness + false Muscle stiffness + false Joint stiffness + false Nausea + false Vomiting + false Brain fog + false Stiffness + false Weakness + false @@ -10158,144 +10658,168 @@ Chronic non-bacterial osteomyelitis (CNO) is a rare auto-inflammatory bone disor Pain + false Tingling + false Hand pain + false Irritability + false Ringing in ears + false Back pain + false Leg pain + false Joint pain + false Fatigue + false Bluish coloring of hands/feet + false Foot pain + false Dizziness + false Headache + false Cold hands + false Cold feet + false Chest pain + false Irregular heartbeat + false Nausea + false Vomiting + false Diarrhea + false Weakness + false Weight loss + false Behavioral changes + false Pain or discomfort in swallowing cold foods and liquids + false @@ -10444,48 +10968,56 @@ More study is needed. Vomiting + true Weight loss + true Loose fatty stools that do not flush easily + true Nausea + true Fatigue + false Diarrhea + true Shortness of breath + false Increased thirst + true @@ -10601,102 +11133,119 @@ More study is needed. Cramps + false Hearing loss + false Ringing in ears + false Unsteady gait + false Pain + false Sensitivity to light + false Red eyes + false Blurred vision + false Dizziness + false Nausea + false Vomiting + false Fever + false Fatigue + false Eye pain + false Vertigo + false Weight loss + false Vision problems + false @@ -10845,102 +11394,119 @@ More study is needed. Pain + false Heart murmur + false Irregular heartbeat + false Fatigue + false Dizziness + false Headache + false Coldness + false Pale skin + false Dark urine + false Yellow skin + false Chest pain + false Back pain + false Leg pain + false Vomiting + false Diarrhea + false Bluish coloring of hands/feet + false Skin discoloration + false @@ -11157,84 +11723,98 @@ More study is needed. Pain + false Burning + false Throbbing pain in limbs + false Changes in nails + false Skin discoloration + false Muscle spasms + false Burning sensation + false Changes in hair + false Skin temperature changes + false Skin texture changes + false Sensitivity to touch + false Sensitivity to extreme cold + false Weakness + false Tremor + false @@ -11460,78 +12040,91 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen Pain + false Abdominal pain + false Delayed puberty + false Delayed growth + false Abdominal cramps + false Diarrhea + false Fever + false Fatigue + false Blood in stool + false Mouth sores + false Weight loss + false Eye inflammation + false Skin disorders + false @@ -11647,30 +12240,35 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen Weight loss + false Difficulty breathing + false Fever + false Fatigue + false Cough + false @@ -11841,30 +12439,35 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen Pain + false Painful rashes + false Painful sores + false Thinning of skin + false Brittle fingernails + false @@ -11877,18 +12480,21 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen Hair loss + false Skin discoloration + false Rash + false @@ -11962,36 +12568,42 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Pain + false Rapid heartbeat + false Abnormal growths/lesions on the skin that may be painful + false Diarrhea + false Fast breathing + false Difficulty breathing + false @@ -12085,72 +12697,84 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Burning + false Pain + false Rash + false Itchy rash + false Burning rash + false Stinging rash + false Sensitivity to gluten + false Abdominal bloating + false Cramps + false Abdominal pain + false Diarrhea + false Constipation + false @@ -12249,48 +12873,56 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Rash + false Weakness + false Progressive, symmetrical muscle weakness + false Violet/dusky red rash + false Scalp discoloration + false Difficulty swallowing + false Tenderness + false Fatigue + false @@ -12385,72 +13017,84 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Erectile dysfunction + false Weakness + false Bowel changes + false Dry mouth + false Bladder changes + false Eyelid drooping + false Weakness in arms + false Weakness in legs + false Fatigue + false Dry eyes + false Difficulty swallowing + false Difficulty chewing + false @@ -12645,90 +13289,105 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Pain + false Pain after sexual intercourse + false Painful menstrual periods + false Heavy menstrual flow + false Bleeding between menstrual cycles + false Painful cramps during menstrual periods + false Pain and/or cramps in the lower abdomen before menstruation + false Pain when urinating during menstrual periods + false Painful bowel movements during menstrual periods + false Infertility + false Fatigue + false Diarrhea + false Constipation + false Bloating during menstrual periods + false Nausea during menstrual periods + false @@ -12817,96 +13476,112 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Swelling + false Pain + false Toe pain + false Heel pain + false Hip pain + false Knee pain + false Back pain + false Elbow pain + false Pain on the bottom of the foot, especially noticeable when moving + false Swollen heel + false Swollen knees + false Swollen hip + false Swollen toes + false Swollen elbows + false Swollen back + false Swollen feet + false @@ -12990,48 +13665,56 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Chest pain + false Indigestion + false Acid reflux/heartburn + false Abdominal pain + false Poor weight gain + false Difficulty swallowing + false Vomiting + false Food getting stuck in the esophagus after swallowing + false @@ -13044,18 +13727,21 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Pain + false Difficulty eating + false Failure to thrive + false @@ -13149,6 +13835,7 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Confusion + false @@ -13161,60 +13848,70 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Loss of consciousness + false Seizures + false Involuntary movements + false Fear + false Anxiety + false Changes in senses + false Dizziness + false Tingling + false Seeing flashing lights + false Repetitive movements + false @@ -13292,30 +13989,35 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Burning + false Sensitivity to light + false Burning/gritty sensation in eyes + false Eye irritation + false Watery eyes + false @@ -13399,66 +14101,77 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Swelling + false Pain + false Fever + false Joint pain + false Abdominal pain + false Flu-like symptoms + false Abnormal lumps below skin + false Painful, symmetrical lumps + false Pain when standing + false Swollen ankles + false Lumps turn blue or yellow + false @@ -13545,42 +14258,49 @@ When mastocytosis is not limited to the skin, it is called systemic mastocytosis Tingling + false Skin discoloration + false Lesions + false Easy bruising + false Hives + false Numbness in the fingers or toes, especially in cold temperatures + false Tingling in the fingers or toes, especially in cold temperatures + false @@ -13670,54 +14390,63 @@ The disorder resembles a combination of autoimmune hemolytic anemia, thrombocyto Mouth sores + false Weakness + false Fatigue + false Shortness of breath + false Easy bruising + false Nosebleeds + false Skin discoloration + false Frequent infections + false Fever + false @@ -13820,114 +14549,133 @@ The disorder resembles a combination of autoimmune hemolytic anemia, thrombocyto Burning + false Tingling + false Burning sensation in hand + false Pain + false Wrist pain + false Hand pain + false Tingling of wrist + false Burning sensation in wrist + false Skin hardening + false Tingling of hand + false Pain in extremities + false Skin stiffening + false Muscle pain + false Joint pain + false Tenderness + false Redness + false Swelling + false Orange peel appearance of skin of the extremities + false Skin texture changes + false @@ -14026,54 +14774,63 @@ The disorder resembles a combination of autoimmune hemolytic anemia, thrombocyto Swelling + false Stiffness + false Pain + false Joint pain + false Joint stiffness + false Swollen joints + false Fever + false Fatigue + false Weight loss + false @@ -14230,48 +14987,56 @@ ASA is not a concern except for people trying to conceive. Findings include a se Fatigue + false Sleep problems + false Tenderness + false Pain + false Cognitive impairment + false Stiffness + false Muscle tenderness + false Tendon tenderness + false @@ -14390,126 +15155,147 @@ ASA is not a concern except for people trying to conceive. Findings include a se Finger tremor + false Sensitivity to extreme heat + false Thickened red skin + false Heavy menstrual flow + false Easy bruising + false Hand tremor + false Anxiety + false Irritability + false An increase in perspiration or warm, moist skin + false Rapid heartbeat + false Irregular heartbeat + false Weight loss + false Erectile dysfunction + false Reduced libido + false Frequent bowel movements + false Fatigue + false Sleep problems + false Bulging eyes + false Swelling + false Swelling in neck + false Tremor + false @@ -14621,150 +15407,175 @@ ASA is not a concern except for people trying to conceive. Findings include a se Tingling + false Loss of bowel control + false Difficulty speaking + false Difficulty swallowing + false Loss of bladder control + false Paralysis of eye muscles + false Lightheadedness + false Unsteady gait + false Weakness in legs + false Tingling of extremities + false Pain + false Weakness in upper body + false Facial droop + false Double vision, horizontal or vertical, that improves when one eye is closed + false Dysfunction of pupils + false Facial flushing + false Lack of sweat + false Excessive sweating + false Difficulty breathing + false Vision problems + false Weakness + false Difficulty climbing stairs + false Cramps + false Irregular heartbeat + false Double vision + false @@ -14870,30 +15681,35 @@ ASA is not a concern except for people trying to conceive. Findings include a se Blisters + false Patches of blisters + false Large blisters + false Red bumps on abdomen + false Hives + false @@ -14973,36 +15789,42 @@ ASA is not a concern except for people trying to conceive. Findings include a se Painful red bumps that enlarge, break open, and drain pus. the pus may have an unpleasant odor + false Leaking bumps or sores that heal very slowly and recur over time + false Pain + false Abnormal lumps below skin + false Scarring + false Small pitted areas of skin containing blackheads + false @@ -15082,36 +15904,42 @@ ASA is not a concern except for people trying to conceive. Findings include a se Rash with tender, purple or brownish-red spots + false Skin sores + false Skin blisters + false Hives + false Blisters + false Rash + false @@ -15269,36 +16097,42 @@ ASA is not a concern except for people trying to conceive. Findings include a se Weight loss + false Dry cough + false Shortness of breath + false Fatigue + false Swollen fingers + false Swelling + false @@ -15391,60 +16225,70 @@ ASA is not a concern except for people trying to conceive. Findings include a se Muscle pain + false Dark urine + false Joint pain + false Swollen hands + false Swollen feet + false Foamy, frothy urine + false Back pain + false Blood in urine + false Swelling + false Pain + false @@ -15725,90 +16569,105 @@ Note that thrombotic thrombocytopenic purpura, TTP, is a ***genetic*** disease t Blisters + false Nosebleeds + false Yellow skin + false Easy bruising + false Tiny reddish-purple spots, usually on lower legs + false Prolonged bleeding from cuts + false Rupturing blisters + false Blood in urine + false Purple skin where blood has collected just beneath the surface of the skin + false Headache + false Blood in stool + false Bleeding gums + false Fatigue + false Heavy menstrual flow + false Drowsiness + false @@ -15909,72 +16768,84 @@ This condition is usually temporary (4-6 weeks) with a full recovery for most pa Purplish rash, typically on the lower legs and buttocks + false Abdominal pain + false Joint pain + false Blood in urine + false Headache + false Blood in stool + false Swollen penis + false Swollen testicles + false Difficulty breathing + false Swelling + false Rash + false Pain + false @@ -16258,54 +17129,63 @@ At this time, not all IgG4 diseases are documented, and many are very rare. Howe Progressive muscle weakness + false Joint tenderness + false Muscle tenderness + false Difficulty swallowing + false Difficulty speaking + false Fatigue + false Shortness of breath + false Weakness + false Tenderness + false @@ -16621,48 +17501,56 @@ There are other forms of uveitis that can be autoimmune. Floaters in vision + false Blurred vision + false Eye pain + false Sensitivity to light + false Red eyes + false Vision loss + false Vision problems + false Pain + false @@ -16840,42 +17728,49 @@ Some patients experience full relief from symptoms with medical attention, while Swollen joints + false Pain, especially first thing in the morning or after a nap + false Limping + false Stiffness + false Clumsiness, particularly in the morning or after naps + false Swelling + false Pain + false @@ -16964,60 +17859,70 @@ Most papers on lichen planus assume all cases of the disease are autoimmune or d Nail loss + false Mouth ulcers + false Blister inside mouth + false White patches on gums + false White patches on lips + false Purplish, flat-topped bumps, on inner forearm, wrist or ankle, and sometimes on the genitals + false Itching + false Vaginal ulcers + false Hair loss + false Redness + false @@ -17113,90 +18018,105 @@ Most papers on lichen planus assume all cases of the disease are autoimmune or d Redness of anus + false Pain during bowel movements + false Easy bruising + false Watery eyes + false Abdominal cramps + false Pain during sexual intercourse + false Pain during urination + false Blisters + false Pain + false Severe itching + false Smooth white spots on skin + false Discomfort, which is generally greater if lichen sclerosus appears on or around your genital or anal areas + false Bleeding blisters + false Nausea + false Vomiting + false @@ -17281,114 +18201,133 @@ Most papers on lichen planus assume all cases of the disease are autoimmune or d Pain + false Mouth ulcers + false Watery eyes + false Red eyes + false Eye discharge + false Eye pain + false Sensitivity to light + false Thickening of eyelid mucosa with a wood-like consistency + false Fever + false Ear pain + false Hearing loss + false Sore throat + false Change in voice + false Sores or masses under eyelid + false Eye lesions + false Eye irritation + false Gum enlargement + false Loss of teeth + false Frequent infections + false @@ -17607,102 +18546,119 @@ Most papers on lichen planus assume all cases of the disease are autoimmune or d Burning + false Blisters + false Blister inside mouth + false Mouth ulcers + false Lip ulcers + false Dry eyes + false Sensitivity to light + false Blister on lips + false Blisters on skin + false Itching + false Patches of blisters + false Burning skin + false Eye irritation + false Blurred vision + false Scarring on cornea + false Blindness + false Vision problems + false @@ -17807,156 +18763,182 @@ Most papers on lichen planus assume all cases of the disease are autoimmune or d Chest pain + false Difficulty swallowing + false Constipation + false Pain + false Stiffness + false Vomiting + false Stiffness upon inactivity + false Sleep problems + false Concentration loss + false Weight gain + false Acid reflux/heartburn + false Heavy menstrual flow + false Prolonged menstrual bleeding + false Painful, fatty lumps + false Weakness + false Fatigue + false Depression + false Epilepsy + false Confusion + false Irritability + false Dementia + false Migraine headaches + false Memory problems + false Rapid heartbeat + false Joint pain + false Shortness of breath + false @@ -18067,198 +19049,231 @@ Most papers on lichen planus assume all cases of the disease are autoimmune or d Pain + false Swelling + false Fever + false Malaise + false Weight loss + false Fatigue + false Swollen, painful nodule under skin + false Itchy skin + false Skin sores + false Gangrene of extremities + false Bluish coloring of hands/feet + false Joint pain + false Swollen joints + false Cough + false Shortness of breath + false Heaviness in chest + false Cramps + false Abdominal pain + false Bloating + false Blood in stool + false Vision loss + false Blurred vision + false Headache + false Confusion + false Seizures + false Change in mental status + false Hand pain + false Foot pain + false Weakness + false Numbness + false Tingling + false Loss of sensation + false Vision problems + false @@ -18326,12 +19341,14 @@ The exact cause of both primary and secondary autoimmune orchitis is still unkno Infertility + false Unable to conceive + false @@ -18421,54 +19438,63 @@ It is under debate whether collagenous and lymphocytic colitis are different pha Pain + false Diarrhea + false Abdominal pain + false Abdominal cramps + false Abdominal bloating + false Weight loss + false Nausea + false Loss of bowel control + false Bowel movement urgency + false @@ -18567,132 +19593,154 @@ It is under debate whether collagenous and lymphocytic colitis are different pha Pain + false Abnormal lumps below skin + false Prickling sensations + false Weight loss + false Fever + false Spitting up blood + false Abdominal pain + false Nausea + false Vomiting + false Diarrhea + false Rash + false Skin sores + false Nerve pain + false Weakness + false Loss of sensation + false Seizures + false Difficulty breathing + false Cough + false Joint pain + false Muscle pain + false Tingling + false Blood in stool + false @@ -18795,102 +19843,119 @@ It is under debate whether collagenous and lymphocytic colitis are different pha Pain + false Stiffness + false Facial pain + false Weakness + false Tightness of the skin of the fingers + false Joint pain + false Swollen hands + false Stiffness of the skin of the fingers + false Foot pain + false Bluish coloring of hands/feet + false Chest pain + false Facial reddening + false Butterfly-shaped rash face that covers the cheeks and bridge of the nose + false Rash + false Swelling + false Butterfly-shaped rash + false Yellow eyes + false @@ -18981,66 +20046,77 @@ It is under debate whether collagenous and lymphocytic colitis are different pha Pain + false Vision loss + false Eye pain + false Blindness + false Red eyes + false Eye inflammation + false Watery eyes + false Eye discharge + false Sensitivity to light + false Blurred vision + false Vision problems + false @@ -19149,108 +20225,126 @@ There is no cure for morphea, but treatments are available to manage symptoms. Pain + false Facial pain + false Headache + false Vision problems + false Dry eyes + false Eye pain + false Joint pain + false Muscle pain + false Weakness + false Oval-shaped patches + false Red patches with light center + false Hair loss + false Decreased sweating + false Fatigue + false Carpal tunnel syndrome + false Difficulty swallowing + false Shortness of breath + false Seizures + false @@ -19397,54 +20491,63 @@ Although this rare disease most commonly affects children, adults may have this Headache + false Weakness + false Involuntary movements + false Recurrent transient ischemic attacks + false Seizures + false Disturbed consciousness + false Vision problems + false Cognitive impairment + false Sensory impairment + false @@ -19572,114 +20675,133 @@ Although this rare disease most commonly affects children, adults may have this Burning + false Vision problems + false Loss of bowel control + false Unsteady gait + false Weakness + false Impaired coordination + false Numbness + false Eye pain + false Pain + false Vision loss + false Tremor + false Burning sensation + false Tingling + false Electric-shock sensations that occur with certain head movements + false Double vision, horizontal or vertical, that improves when one eye is closed + false Fatigue + false Dizziness + false Difficulty speaking + false Double vision + false @@ -19787,84 +20909,98 @@ Although this rare disease most commonly affects children, adults may have this Weakness + false Double vision, horizontal or vertical, that improves when one eye is closed + false Difficulty swallowing + false Difficulty chewing + false Change in facial expression + false Shortness of breath + false Difficulty speaking + false Vision problems + false Weakness in hands + false Weakness in arms + false Eyelid drooping + false Weakness in neck + false Weakness in fingers + false Double vision + false @@ -19955,72 +21091,84 @@ Although this rare disease most commonly affects children, adults may have this Pain + false Weakness + false Weakness in arms + false Weakness in legs + false Vision loss + false Eye pain + false Blurred vision + false Difficulty seeing color + false Back pain + false Seizures + false Loss of sensation + false Vision problems + false @@ -20114,54 +21262,63 @@ Although this rare disease most commonly affects children, adults may have this Flu-like symptoms + false Chest pain + false Fatigue + false Swelling + false Shortness of breath + false Pain + false Rapid heartbeat + false Irregular heartbeat + false Lightheadedness + false @@ -20259,60 +21416,70 @@ Although this rare disease most commonly affects children, adults may have this Muscle pain + false Difficulty swallowing + false Weakness + false Trouble rising from a chair + false Pain + false Weakness in arms + false Tired feeling after standing or walking + false Muscle soreness + false Difficulty breathing + false Difficulty climbing stairs + false @@ -20405,108 +21572,126 @@ The specific location of vasculitis inflammation determines what tissue or organ Weakness + false skin sores + false Nosebleeds + false Fever + false Chills + false Fatigue + false Weight loss + false Redness + false Pain + false Tingling + false Different sized pupils + false Eyelid drooping + false Difficulty swallowing + false Movement difficulty + false Cough + false Shortness of breath + false Nasal congestion + false Coughing up blood + false @@ -20652,42 +21837,49 @@ The specific location of vasculitis inflammation determines what tissue or organ Joint pain + false High shoulder blade + false Reduced reflexes + false Weakness + false Prickling sensations + false Pain + false Winged shoulder blade + false @@ -20785,48 +21977,56 @@ The specific location of vasculitis inflammation determines what tissue or organ Eye pain + false Vision loss + false Paralysis + false Hiccups + false Nausea + false Vomiting + false Pain + false Vision problems + false @@ -20925,126 +22125,147 @@ The specific location of vasculitis inflammation determines what tissue or organ Reduced reflexes + false Hand spasms + false Personality changes + false Rapid heartbeat + false Sleep problems + false Memory problems + false Muscle spasms + false Feet spasms + false Hallucinations + false Confusion + false Muscle stiffness + false Cramps + false Delayed muscle relaxation after strong contraction + false Muscle pain + false Muscle loss + false Increased calf muscle size + false Constipation + false Psychosis + false Weight loss + false Pain + false Stiffness + false @@ -21142,78 +22363,91 @@ The specific location of vasculitis inflammation determines what tissue or organ Sleep problems + false Anxiety + false Bedwetting + false Behavioral changes + false Deterioration in school performance + false Sensory impairment + false Depression + false Aggression + false Tics + false Ocd + false Irritability + false Increased urination + false Development regression + false @@ -21308,78 +22542,91 @@ The specific location of vasculitis inflammation determines what tissue or organ Skin discoloration + false Frequent infections + false Muscle cramps + false Numbness + false Tingling + false Seizures + false Fatigue + false Abdominal pain + false Dizziness + false Weight loss + false Hyperpigmentation + false Hair loss + false Pain + false @@ -21487,96 +22734,112 @@ The specific location of vasculitis inflammation determines what tissue or organ Cold intolerance + false Eyelid drooping + false Blurred vision + false Swelling in neck + false Fatigue + false Nausea + false Vomiting + false Weakness + false Anorexia + false Dull facial expression + false Swelling around eyes + false Memory problems + false Swelling + false Vision problems + false Weight loss + false Poor skin rigidity + false @@ -21663,84 +22926,98 @@ The specific location of vasculitis inflammation determines what tissue or organ Skin texture changes + false Eyelid drooping + false Hunger + false Skin pigmentation loss + false Alopecia + false Fatigue + false Puffy face + false Weakness + false Blurred vision + false Weight loss + false Shortness of breath + false Swelling + false Vision problems + false Swelling in neck + false @@ -21823,126 +23100,147 @@ The specific location of vasculitis inflammation determines what tissue or organ Hunger + false Loss of bowel control + false Increased frequency of urination + false Bowel movement urgency + false Scaling of the scalp + false Increased thirst + false Weight loss + false Mood changes + false Fatigue + false Weakness + false Blurred vision + false Diarrhea + false Blood in stool + false Rectal bleeding + false Fever + false Skin pigmentation loss + false Pain + false Joint stiffness + false Yellow skin + false Stiffness + false Vision problems + false @@ -22029,84 +23327,98 @@ The specific location of vasculitis inflammation determines what tissue or organ Shoulder pain + false Weight loss + false Wrist pain + false Knee stiffness + false Wrist stiffness + false Fever + false Malaise + false Knee pain + false Stiffness upon inactivity + false Muscle pain + false Limited range of motion in affected areas + false Fatigue + false Stiffness + false Pain + false @@ -22207,90 +23519,105 @@ The specific location of vasculitis inflammation determines what tissue or organ Difficulty speaking + false Fatigue + false Difficulty swallowing + false Pain + false Shortness of breath + false Weakness + false Difficulty breathing + false Weight loss + false Muscle pain + false Difficulty moving from sitting to standing + false Falling + false Difficulty climbing stairs + false Weakness in joints + false Joint pain + false Fever + false @@ -22405,108 +23732,126 @@ The specific location of vasculitis inflammation determines what tissue or organ Fatigue + false Itchy skin + false Dry eyes + false Dry mouth + false Joint pain + false Muscle pain + false Bone pain + false Swollen feet + false Swollen ankles + false Accumulation of fluid in the abdomen + false Fatty deposits on the skin around your eyes, your eyelids, or in the creases in your palms, soles, elbows or knees + false Yellow skin + false Hyperpigmentation + false Diarrhea + false Weight loss + false Swelling + false Pain + false Yellow eyes + false @@ -22623,78 +23968,91 @@ The specific location of vasculitis inflammation determines what tissue or organ Fatigue + false Itchy skin + false Abdominal discomfort + false Abdominal pain + false Malaise + false Nausea + false Fever + false Chills + false Night sweats + false Weight loss + false Dark urine + false Pain + false Yellow eyes + false @@ -22789,18 +24147,21 @@ The development of psoriasis involves a complex cycle of immune activation and s Small scaling spots + false Dry, cracked skin that may bleed + false Disorders of finger and toe nails + false @@ -22898,84 +24259,98 @@ The development of psoriasis involves a complex cycle of immune activation and s Swollen feet + false Swollen ankles + false Swollen hands + false Joint pain + false Swollen toes + false Back pain + false Stiffness + false Fatigue + false Swollen wrists + false Swollen elbows + false Swollen shoulders + false Swollen knees + false Swelling + false Pain + false @@ -23067,42 +24442,49 @@ Secondary Raynaud's is a symptom experienced (and reported) by patients with aut Foot pain + false Bluish coloring of hands/feet + false Numbness + false Pain + false Coldness + false Hand pain + false When blood starts to return to these areas, fingers or toes that turn red, burn, throb, experience numbness, or tingle. + false @@ -23204,108 +24586,126 @@ Secondary Raynaud's is a symptom experienced (and reported) by patients with aut Burning + false Joint pain + false Joint stiffness + false Tendon pain + false Back pain + false Eye irritation + false Blurred vision + false Sensitivity to light + false Burning with urination + false Increased frequency of urination + false Diarrhea + false Fever + false Fatigue + false Weight loss + false Rash + false Stiffness + false Pain + false Vision problems + false @@ -23413,96 +24813,112 @@ In cases where the cartilage is not visible, RP can cause heart valve abnormalit Fatigue + false Fever + false Ear pain + false Limpness of the ear + false Loss of hearing + false Dizziness + false Rib pain + false Joint pain + false Nasal congestion + false Nosebleeds + false Wheezing + false Shortness of breath + false Cough + false Hoarseness + false High-pitched sound during breathing + false Pain + false @@ -23588,18 +25004,21 @@ In cases where the cartilage is not visible, RP can cause heart valve abnormalit Discomfort in legs that is relieved by movement + false Discomfort in legs that occur mainly at night + false Discomfort in legs that begins after lying down or sitting for a long time + false @@ -23703,114 +25122,133 @@ The severity of cases may vary, with mild cases resolving in under a year and se Difficulty concentrating + false Personality changes + false Depression + false Psychosis + false Aggression + false Anxiety + false Muscle pain + false Dark spots in vision + false Loss of peripheral vision + false Hearing loss + false Ringing in ears + false Dizziness + false Difficulty speaking + false Unsteady gait + false Migraine headaches + false Memory problems + false Confusion + false Pain + false Vision problems + false @@ -23900,72 +25338,84 @@ Since antibiotics have reduced the incidence of rheumatic fever, the incidence o Unsteady gait + false Mood changes + false Involuntary movements + false Difficulty speaking + false Weakness + false Difficulty concentrating + false Obsessions + false Compulsive behavior + false Anxiety + false Confusion + false Irritability + false Difficulty walking + false @@ -24072,96 +25522,112 @@ Note: scarlet fever is another symptom of a strep infection but is not a separat Pain + false Involuntary movements + false Behavioral changes + false Joint pain + false Abnormal lumps below skin + false Swollen joints + false Joint tenderness + false Migrating joint pain + false Fever + false Chest pain + false Heart murmur + false Fatigue + false Flat or slightly raised, painless rash with a ragged edge + false Swelling + false Rash + false Tenderness + false @@ -24289,72 +25755,84 @@ There is no cure, though treatments to manage symptoms are available. Prognosis Pain + false Joint pain + false Stiffness + false Swollen joints + false Tenderness + false Nodules in fingers + false Nodules in heel + false Nodules in toes + false Fatigue + false Fever + false Weight loss + false Firm bumps of tissue under the skin on your arms + false @@ -24367,12 +25845,14 @@ There is no cure, though treatments to manage symptoms are available. Prognosis Carpal tunnel syndrome + false Swelling + false @@ -24468,90 +25948,105 @@ There is no cure, though treatments to manage symptoms are available. Prognosis Pain + false Vision problems + false Finger pain + false Toe pain + false Tingling + false Numbness + false Eye pain + false Chest pain + false Shortness of breath + false Fever + false Weight loss + false Rash + false skin sores + false Blood in stool + false Blood in urine + false @@ -24659,162 +26154,189 @@ Sarcoidosis often starts with a set of symptoms collectively referred to as Lofg Pain + false Swelling + false Weakness + false Vision problems + false Weakness in facial muscles + false Swollen legs + false Irregular heartbeat + false Weakness in arms + false Eye pain + false Chest pain + false Weakness in legs + false Shortness of breath + false Wheezing + false Fatigue + false Weight loss + false Night sweats + false Skin discoloration + false Scaly-appearing skin + false Rash + false Muscle pain + false Red eyes + false Sensitivity to light + false Blurred vision + false Cough + false Fever + false Joint pain + false Headache + false @@ -24894,48 +26416,56 @@ Patients with Schnitzler syndrome typically experience chronic rash, relapsing f Pain + false Muscle pain + false Fever + false Joint pain + false Fatigue + false Weight loss + false Bone pain + false Rash + false @@ -25026,60 +26556,70 @@ Patients with Schnitzler syndrome typically experience chronic rash, relapsing f Pain + false Vision problems + false Eye pain + false Headache + false Vision loss + false Watery eyes + false Blurred vision + false Sensitivity to light + false Eye irritation + false Double vision + false @@ -25208,156 +26748,182 @@ Patients with Schnitzler syndrome typically experience chronic rash, relapsing f Cognitive impairment + false Sinus infection + false Dry mouth + false Rash + false Burning + false Joint stiffness + false Swollen joints + false Pain + false Dry eyes + false Bluish coloring of hands/feet + false Foot pain + false Sinus inflammation + false Swelling of salivary glands + false Fatigue + false Burning/gritty sensation in eyes + false Acid reflux/heartburn + false Shortness of breath + false Depression + false Anxiety + false Dizziness + false Cough + false Stiffness + false Swelling + false Hand pain + false Dry skin + false Vaginal dryness + false @@ -25473,114 +27039,133 @@ Patients with Schnitzler syndrome typically experience chronic rash, relapsing f Skin sores + false Swollen hands + false Nose ulcers + false Swollen legs + false Mouth rash + false Swollen feet + false Nose rash + false Swollen ankles + false Swelling + false Rash + false Foamy, frothy urine + false Headache + false Dizziness + false Nausea + false Vomiting + false Weight gain + false Increased urination at night + false Blood in urine + false Mouth ulcers + false @@ -25765,192 +27350,224 @@ Patients with Schnitzler syndrome typically experience chronic rash, relapsing f Psychosis + false Disorientation + false Cognitive impairment + false Headache + false Memory problems + false Impaired coordination + false Difficulty understanding basic concepts + false Difficulty retaining information + false Difficulty finding words + false Attention-span problems + false Anxiety + false Confusion + false Altered level of consciousness + false Behavioral changes + false Coma + false Depression + false Sleep problems + false Fever + false Seizure during which the person remains conscious and alert + false Seizure during which the person remains unconscious + false Hallucinations + false Over-responsive reflexes + false Prone to infections + false Irritability + false Nausea + false Paralysis + false Paranoid delusions + false Personality changes + false Daytime sleepiness + false Fatigue + false Social withdrawal + false Vomiting + false @@ -26047,66 +27664,77 @@ Patients with Schnitzler syndrome typically experience chronic rash, relapsing f Pain + false Stiffness + false Back pain + false Lower back stiffness + false Muscle spasms + false Unsteady gait + false Leg stiffness + false Hunched posture + false Anxiety + false Weight loss + false Feeling full quickly after eating + false @@ -26202,72 +27830,84 @@ This condition most frequently occurs following surgery to a region of the body Pain + false Chest pain + false Rapid heartbeat + false Abdominal pain + false Fatigue + false Shortness of breath + false Fever + false Heart palpitations + false Weakness + false Weight loss + false Irritability + false Joint pain + false @@ -26363,72 +28003,84 @@ This condition most frequently occurs following surgery to a region of the body Pain + false Vision problems + false Floaters in vision + false Skin pigmentation loss + false Eye pain + false Red eyes + false Blurred vision + false Sensitivity to light + false Watery eyes + false Blindness + false Hearing loss + false Headache + false @@ -26545,96 +28197,112 @@ This condition most frequently occurs following surgery to a region of the body Pain + false Swelling + false Rash + false Stiffness + false Joint pain + false Bluish coloring of hands/feet + false Chest pain + false Joint stiffness + false Swollen joints + false Fatigue + false Fever + false Butterfly-shaped rash face that covers the cheeks and bridge of the nose + false Skin lesions that appear or worsen with sun exposure + false Shortness of breath + false Dry eyes + false Butterfly-shaped rash + false @@ -26717,96 +28385,112 @@ When mastocytosis is limited to the skin, it is called cutaneous mastocytosis, a Pain + false Mood changes + false Headache + false Lightheadedness + false Dizziness + false Nausea + false Bone pain + false Muscle pain + false Fatigue + false Nasal congestion + false Shortness of breath + false Depression + false Concentration loss + false Itching + false Abdominal pain + false Diarrhea + false @@ -26923,120 +28607,140 @@ When mastocytosis is limited to the skin, it is called cutaneous mastocytosis, a Pain + false Muscle pain + false Weakness + false Finger pain + false Toe pain + false Joint pain + false Swollen joints + false Chest pain + false Fatigue + false Dry eyes + false Dry mouth + false Dry cough + false Shortness of breath + false Acid reflux/heartburn + false Diarrhea + false Weight loss + false Itching + false Constipation + false Difficulty swallowing + false Swelling + false @@ -27158,108 +28862,126 @@ To be diagnosed with CREST, you must have 3 out of the 5 symptoms. Pain + false Swelling + false Hand pain + false Vision problems + false Bluish coloring of hands/feet + false Foot pain + false Difficulty breathing + false Abdominal discomfort + false Nausea + false Vomiting + false Empty feeling in the abdomen/stomach + false Tightness in the abdomen + false Churning in the stomach + false “butterflies” in the stomach + false Acid reflux/heartburn + false Abdominal pain + false Hunger + false Difficulty swallowing + false @@ -27358,42 +29080,49 @@ Early symptoms may include fever, night sweats, fatigue, joint pain, and chest d Fatigue + false Fever + false Night sweats + false Weight loss + false Muscle pain + false Joint pain + false Headache + false @@ -27401,23 +29130,27 @@ Early symptoms may include fever, night sweats, fatigue, joint pain, and chest d false Lightheadedness + false Arm weakness + Chest pain + false Shortness of breath + false @@ -27425,23 +29158,27 @@ Early symptoms may include fever, night sweats, fatigue, joint pain, and chest d false Fainting + Blurred vision + false Vision problems + false Tingling of extremities + false @@ -27550,36 +29287,42 @@ Early symptoms may include fever, night sweats, fatigue, joint pain, and chest d Pain + false Vision loss + false Shoulder pain + false Arm pain upon exertion + false Hip pain + false Weight loss + false @@ -27598,78 +29341,91 @@ Early symptoms may include fever, night sweats, fatigue, joint pain, and chest d Headache + false Jaw pain when you open your mouth + false Scalp tenderness + false Fever + false Fatigue + false Double vision + false Blurred vision + false Cough + false Throat pain + false Tongue pain + false Depression + false Vision problems + false Tenderness + false @@ -27805,30 +29561,35 @@ Early symptoms may include fever, night sweats, fatigue, joint pain, and chest d Pain + false Constant pain behind the eye + false Headache + false Double vision + false Vision problems + false @@ -27941,162 +29702,189 @@ Early symptoms may include fever, night sweats, fatigue, joint pain, and chest d Pain + false Burning + false Sensory impairment + false Weakness in arms + false Abnormal bladder control + false Numbness + false Coldness + false Weakness in legs + false Burning sensation + false Partial paralysis of the legs + false Total paralysis of the legs + false Muscle pain + false Muscle spasms + false Increased frequency of urination + false Difficulty urinating + false Constipation + false Sensitivity to extreme heat + false Sensitivity to extreme cold + false Headache + false Fever + false Depression + false Anxiety + false Painful and decreased eye movements + false Double vision + false Fatigue + false Weakness + false Vision problems + false @@ -28201,90 +29989,105 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen Pain + false Abdominal pain + false Blood in stool + false Joint pain + false Skin sores + false Urgency without having a bowel movement + false Rectal pain + false Abdominal cramps + false Fever + false Constipation + false Weight loss + false Fatigue + false Dehydration + false Stunted growth in children + false Diarrhea + false @@ -28393,114 +30196,133 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen Pain + false Hand pain + false Weakness + false Seizures + false Foot pain + false Bluish coloring of hands/feet + false Chest pain + false Dry eyes + false Dry mouth + false Joint pain + false Butterfly-shaped rash face that covers the cheeks and bridge of the nose + false Hair loss + false Interstitial pneumonia + false Mental disorders + false Sensitivity to light + false Fatigue + false Mouth ulcers + false Rash + false Butterfly-shaped rash + false @@ -28597,108 +30419,126 @@ Urticaria can also be caused by allergic reaction to plants like poison ivy, dye Burning + false Muscle pain + false Skin discoloration + false Joint pain + false Cough + false Raised purple-red spots + false Pain + false Burning sensation + false Fluid-dilled sacs + false Bumps on skin containing pus + false Abnormal lumps below skin + false Crusted ulcers + false Fever + false Weight loss + false Abdominal pain + false Vomiting + false Weakness + false Rash + false @@ -28807,48 +30647,56 @@ The most common form of autoimmune uveitis is intermediate uveitis. Pain + false Blurred vision + false Sensitivity to light + false Eye pain + false Floaters in vision + false Headache + false Red eyes + false Vision problems + false @@ -28949,30 +30797,35 @@ Normally, the color of hair, skin, and eyes is determined by melanin. Vitiligo o Premature whitening or graying of the hair on your scalp, eyelashes, eyebrows or beard + false Skin discoloration + false Loss of color in the tissues that line the inside of your mouth + false Loss of or change in color of the inner layer of your eye + false Milky white patches on skin + false @@ -29065,72 +30918,84 @@ Normally, the color of hair, skin, and eyes is determined by melanin. Vitiligo o Pain + false Headache + false Skin pigmentation loss + false Yellow skin + false Eye pain + false Dizziness + false Nausea + false Eye inflammation + false Blurred vision + false Hearing loss + false Hair loss + false Vision problems + false @@ -29224,66 +31089,77 @@ Some cases of this disease are caused by medications and are not autoimmune. Pain + false Weakness + false Muscle pain + false Fatigue + false Difficulty breathing + false Shortness of breath + false Headache + false Dizziness + false Rapid heartbeat + false Chills + false Yellow eyes + false @@ -30818,372 +32694,434 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Double vision + false Sensitivity to light + false Corneal ulceration + false Vision problems + false Forward displacement of eye + false Eye irritation + false Dry eyes + false Watery eyes + false Vision loss + false Inability to move the eye + false Anxiety in children + false Muscle spasms + false Irritability in children + false Rage attacks + false Unsteady gait + false Fast, irregular eye movements + false Brain fog + false Fatigue + false Sleep problems + false Weakness + false Impaired coordination + false Stiffness + false Restricted mobility + false Swelling + false Pain + false Swollen joints + false Tendon pain + false Fever + false Joint stiffness + false Fatigue + false Joint pain + false Dizziness + false Nausea + false Hand tremor + false Memory problems + false Tremor + false Involuntary movements + false Difficulty speaking + false Unsteady gait + false Double vision + false Vision problems + false Fast, irregular eye movements + false Vertigo + false Difficulty swallowing + false Impaired coordination + false Fatigue + false Erectile dysfunction + false Headache + false Shortness of breath + false Pain + false Irregular heartbeat + false Trouble breathing when you exercise + false Muscle spasms + false Abdominal pain + false Dark urine + false Genital blisters + false Blister inside throat + false Blisters + false Pain + false Causes blisters on the chest, back and shoulders + false Skin blisters + false Blisters are painful but do not itch + false @@ -31196,504 +33134,588 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Blisters that rupture easily, leaving open sores, which may ooze and become infected. + false Blister inside mouth + false Itchy blisters + false Skin hardening + false Weakness + false Progressive weakness in the legs + false Skin discoloration + false Problems with metabolism + false Excessive sweating + false Vision problems + false Fatigue + false Progressive weakness in the arms + false Vomiting + false Coldness + false Fatigue + false Weight loss + false Joint pain + false Night sweats + false Pain + false Vision problems + false Fever + false Weakness + false Rash + false Vision loss + false Abdominal pain + false Nausea + false Muscle pain + false Chest pain + false Heart palpitations + false Rapid heartbeat + false Shortness of breath + false Difficulty breathing + false Fever + false Irritability + false Pain + false Joint pain + false Fatigue + false Shortness of breath + false Swelling + false Fatigue + false Difficulty exercising + false Pain + false Chest pain + false Weight gain + false Heart palpitations + false Misalignment of teeth + false Skin discoloration + false Absence of eyelashes + false Burning sensation + false Misalignment of jaw + false Whitening of hair + false Curling of upper lip + false Prickling sensations + false Eyelid drooping + false Burning + false Difficulty chewing + false Backwards displacement of eye + false Pain + false Migraine headaches + false Difficulty moving jaw + false Different colored eyes + false Facial pain + false Skull depressions + false Seizures + false Bald patches + false Thinning or shrinking of facial tissues + false Dizziness + false Fatigue + false Difficulty breathing + false Shortness of breath + false Easy bruising + false Fever + false Pain + false Skin sores + false Joint pain + false Muscle pain + false Small red bumps + false Loss of motor skills + false Vision problems + false Weakness + false Mental decline + false Seizures + false Paralysis + false Progressive loss of speech + false @@ -31755,6 +33777,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Acute/subacute limbic amnesia and confusion + 85–95% false @@ -31762,6 +33785,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Marked psychiatric and behavioral changes (agitation, psychosis) + 65–80% false @@ -31769,6 +33793,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Epileptic seizures + 50–60% false @@ -31828,6 +33853,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Early intractable limbic seizures and temporal lobe status + 90–100% false @@ -31835,6 +33861,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe short-term memory loss / amnesia + 80–90% false @@ -31842,6 +33869,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Behavioral changes, confusion, and psychosis + 60–70% false @@ -31918,6 +33946,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe aortic valve regurgitation + 40–55% false @@ -31925,6 +33954,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Deep thoracic or back pain + 40–50% false @@ -31997,6 +34027,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe, intractable, chronic secretory diarrhea persisting during fasting + 95–100% false @@ -32011,6 +34042,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe malabsorption, cachexia, and involuntary weight loss + 85–95% false @@ -32018,6 +34050,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Protein-losing enteropathy with severe hypoalbuminemia and anasarca + 60–75% false @@ -32092,6 +34125,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Progressive dysphagia to both liquids and solids + 90–100% false @@ -32099,6 +34133,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Regurgitation of undigested, retained food + 75–85% false @@ -32106,6 +34141,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Retrosternal crampy chest pain + 50–65% false @@ -32113,6 +34149,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Significant weight loss + 50–60% false @@ -32120,6 +34157,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Nocturnal cough and pulmonary aspiration + 30–40% false @@ -32186,6 +34224,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Meningoencephalitis symptoms: subacute fever, severe headache, and neck stiffness + 75–85% false @@ -32193,6 +34232,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Encephalopathy, confusion, and delirium + 65–75% false @@ -32200,6 +34240,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Myelopathy with spinal paraparesis and sensory deficit + 40–50% false @@ -32207,6 +34248,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autonomic dysregulation and neurogenic bladder + 35–45% false @@ -32214,6 +34256,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Visual impairment / bilateral optic disc edema (papillitis) + 30–40% false @@ -32278,6 +34321,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Spontaneous, extensive subcutaneous and soft-tissue hematomas + 80–90% false @@ -32285,6 +34329,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Prolonged, unprovoked post-traumatic or post-surgical hemorrhage + 70–85% false @@ -32292,6 +34337,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Mucocutaneous, hematuric, and gastrointestinal bleeding + 25–35% false @@ -32299,6 +34345,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Spontaneous hemarthrosis + <10% false @@ -32378,6 +34425,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Rapidly progressive, symmetric sensorimotor polyradiculoneuropathy + 85–95% false @@ -32392,6 +34440,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe sensory ataxia with gait failure + 60–75% false @@ -32399,6 +34448,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe quadriparesis / motor disability + 50–65% false @@ -32406,6 +34456,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Marked high-amplitude postural and action tremor + 40–50% false @@ -32467,6 +34518,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Generalized areflexia + 90–95% false @@ -32474,6 +34526,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Subacute to acute severe symmetrical distal and proximal limb weakness + 80–90% false @@ -32481,6 +34534,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe proprioceptive sensory ataxia and positive Romberg sign + 70–80% false @@ -32488,6 +34542,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Prominent action tremor of hands and arms + 40–55% false @@ -32554,6 +34609,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Microangiopathic hemolytic anemia with schistocytes on blood smear + 95–100% false @@ -32561,6 +34617,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Profound consumptive thrombocytopenia with purpura and bleeding + 95–100% false @@ -32568,6 +34625,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Fluctuating neurological symptoms (confusion, transient focal deficits, seizure, coma) + 60–70% false @@ -32575,6 +34633,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Renal dysfunction (azotemia, proteinuria, hematuria) + 40–50% false @@ -32582,6 +34641,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Low-grade fever + 25–35% false @@ -32641,6 +34701,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Inability to conceive after ≥1 year of unprotected intercourse with normal evaluations + 95–100% false @@ -32710,6 +34771,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Recurrent episodes of severe hypersomnia (sleeping 16–20 hours daily for days/weeks) + 100% false @@ -32724,6 +34786,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Cognitive derealization, apathy, and altered perception + 80–90% false @@ -32731,6 +34794,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Compulsive megaphagia / binge eating during episodes + 70–80% false @@ -32738,6 +34802,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hypersexuality and disinhibited behaviors + 45–55% false @@ -32800,6 +34865,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Early-onset multi-organ autoimmunity starting in infancy/childhood + 100% false @@ -32807,6 +34873,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autoimmune cytopenias (autoimmune thrombocytopenia, AIHA, neutropenia) + 70–80% false @@ -32814,6 +34881,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Postnatal growth failure and severe short stature + 60–75% false @@ -32821,6 +34889,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic lymphadenopathy and hepatosplenomegaly + 50–60% false @@ -32828,6 +34897,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Early-onset type 1 diabetes mellitus + 40–50% false @@ -32835,6 +34905,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe chronic autoimmune enteropathy with intractable diarrhea + 40–50% false @@ -50893,6 +52964,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Disseminated non-tuberculous mycobacterial (NTM) infections + 80–90% false @@ -50900,6 +52972,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic suppurative lymphadenitis + 65–75% false @@ -50907,6 +52980,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Reactive pustular/neutrophilic dermatoses (Sweet-like) + 40–50% false @@ -50914,6 +52988,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Opportunistic fungal infections (cryptococcosis, penicilliosis) + 30–40% false @@ -51131,6 +53206,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe neuropathic pain + 60–70% false @@ -51138,6 +53214,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Peripheral nerve hyperexcitability (myokymia, fasciculations, muscle cramps) + 50–60% false @@ -51145,6 +53222,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Limbic encephalitis with cognitive decline + 40–50% false @@ -51152,6 +53230,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe agrypnia / intractable insomnia (Morvan syndrome) + 30–40% false @@ -51194,6 +53273,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Prodromal severe diarrhea and weight loss + 80–90% false @@ -51201,6 +53281,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and CNS hyperexcitability: hyperekplexia (exaggerated startle), myoclonus, tremor + 70–80% false @@ -51208,6 +53289,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Progressive cognitive impairment and amnesia + 60–70% false @@ -51250,6 +53332,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Refractory status epilepticus / frequent multifocal seizures + 85–95% false @@ -51257,6 +53340,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Rapid cognitive and behavioral decline + 60–70% false @@ -51264,6 +53348,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Movement disorders (chorea, catatonia, opsoclonus) + 30–40% false @@ -51376,6 +53461,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Prominent sleep architecture disruption (NREM parasomnia, sleep apnea, stridor) + 80–90% false @@ -51383,6 +53469,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Bulbar dysfunction (dysphagia, dysarthria, vocal cord palsy) + 60–70% false @@ -51390,6 +53477,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Progressive gait instability and ataxia + 50–65% false @@ -51397,6 +53485,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chorea, dystonia, or abnormal ocular movements + 30–40% false @@ -51439,6 +53528,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Rapidly progressive short-term memory impairment + 85–90% false @@ -51446,6 +53536,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Pathognomonic faciobrachial dystonic seizures (FBDS) + 60–75% false @@ -51453,6 +53544,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Refractory hyponatremia (SIADH-like) + 60–70% false @@ -51460,6 +53552,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Psychiatric disturbances (confusion, paranoia, hallucinations) + 60–70% false @@ -51502,6 +53595,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Distal lower limb numbness, paresthesias, and pain + 90–100% false @@ -51509,6 +53603,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Slowly progressive, symmetric distal sensory ataxia + 85–95% false @@ -51516,6 +53611,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Marked postural and action tremor of the hands + 60–75% false @@ -51523,6 +53619,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Mild late distal motor weakness (foot drop) + 40–50% false @@ -51565,6 +53662,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Gottron's papules / sign + 80–95% false @@ -51572,6 +53670,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Rapidly progressive interstitial lung disease with hypoxemic respiratory failure + 75–90% false @@ -51579,6 +53678,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Painful deep cutaneous ulcerations (digital, knuckles, elbows) + 60–80% false @@ -51593,6 +53693,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Palmar violaceous papules / inverse Gottron's + 40–50% false @@ -51635,6 +53736,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe proximal symmetrical muscle weakness + 85–95% false @@ -51642,6 +53744,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Gottron's papules + 75–85% false @@ -51649,6 +53752,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Extensive subcutaneous calcinosis (calcinosis cutis) + 40–60% false @@ -51656,6 +53760,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe dysphagia and neck flexor weakness + 35–45% false @@ -51663,6 +53768,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Peripheral and periorbital subcutaneous edema + 30–40% false @@ -51852,6 +53958,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic disabling fatigue and unrefreshing sleep + 80–90% false @@ -51859,6 +53966,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Diffuse myalgias and muscle weakness + 70–80% false @@ -51866,6 +53974,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Arthralgias or inflammatory arthritis + 60–75% false @@ -51873,6 +53982,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Cognitive impairment, memory loss, and brain fog + 50–60% false @@ -51915,6 +54025,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Microangiopathic hemolytic anemia with fragmented schistocytes + 95–100% false @@ -51922,6 +54033,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe consumptive thrombocytopenia + 90–95% false @@ -51929,6 +54041,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Acute oliguric renal failure / azotemia + 85–95% false @@ -52048,6 +54161,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe, disabling orthostatic hypotension and syncope + 90–100% false @@ -52055,6 +54169,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe gastrointestinal dysmotility (gastroparesis, pseudo-obstruction, constipation) + 70–80% false @@ -52062,6 +54177,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Sicca syndrome (severe dry mouth and dry eyes) + 70–80% false @@ -52069,6 +54185,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Tonic, unreactive, or poorly reactive pupils + 60–75% false @@ -52076,6 +54193,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Anhidrosis / loss of sweating + 60–70% false @@ -52083,6 +54201,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Neurogenic urinary retention + 50–60% false @@ -52125,6 +54244,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Progressive gait instability and appendicular limb ataxia + 90–100% false @@ -52132,6 +54252,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Cerebellar dysarthria / slurred scanning speech + 70–85% false @@ -52139,6 +54260,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Nystagmus, saccadic intrusions, and ocular dysmetria + 60–75% false @@ -52146,6 +54268,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Intention and action tremor + 50–65% false @@ -52188,6 +54311,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Refractory extreme hypertriglyceridemia (>1,000–2,000 mg/dL) with lactescent/milky serum + 100% false @@ -52195,6 +54319,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Eruptive cutaneous xanthomas on extensor surfaces and buttocks + 60–75% false @@ -52202,6 +54327,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Recurrent episodes of acute pancreatitis + 50–65% false @@ -52209,6 +54335,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Lipemia retinalis on fundoscopic examination + 40–55% false @@ -52251,6 +54378,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe polyuria (>3–5 L/24h) with dilute urine + 95–100% false @@ -52258,6 +54386,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Compulsive polydipsia / cold water craving + 95–100% false @@ -52265,6 +54394,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Disruptive nocturia + 90–95% false @@ -52272,6 +54402,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hypernatremic dehydration when fluid access is restricted + 40–50% false @@ -52664,6 +54795,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Perioral, lingual, and digital paresthesias / tingling + 85–95% false @@ -52671,6 +54803,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Painful carpopedal spasms and cramps + 70–80% false @@ -52678,6 +54811,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Latent tetany: positive Chvostek's sign (60–75%) & Trousseau's sign + 70–80% false @@ -52685,6 +54819,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Laryngospasm and stridor + 25–35% false @@ -52692,6 +54827,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hypocalcemic generalized seizures + 15–25% false @@ -52734,6 +54870,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Persistent dull retro-orbital/frontal headache + 70–85% false @@ -52741,6 +54878,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hypopituitarism + secondary adrenal insufficiency: 65–75%, secondary hypothyroidism: 50–60%, hypogonadism: 50–60% false @@ -52748,6 +54886,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Visual field deficits / bitemporal hemianopia due to chiasmal compression + 45–60% false @@ -52755,6 +54894,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Diabetes insipidus (polyuria, polydipsia) + 20–30% false @@ -52797,6 +54937,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Subacute anterograde memory loss and spatial disorientation + 85–95% false @@ -52804,6 +54945,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Temporal lobe complex partial seizures + 65–75% false @@ -52811,6 +54953,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Acute psychiatric disturbances (affective changes, anxiety, psychosis) + 60–70% false @@ -52818,6 +54961,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Disrupted sleep-wake cycles + 40–50% false @@ -53000,6 +55144,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Acute/subacute painful visual loss (unilateral or bilateral) + 90–100% false @@ -53007,6 +55152,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Impaired color vision / dyschromatopsia + 90–95% false @@ -53014,6 +55160,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Retrobulbar pain exacerbated by eye movement + 85–95% false @@ -53021,6 +55168,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Relative afferent pupillary defect (RAPD) and central scotoma + 75–85% false @@ -53147,6 +55295,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Presyncope, lightheadedness, and orthostatic dizziness + 90–95% false @@ -53154,6 +55303,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Palpitations and tremulousness upon standing + 85–95% false @@ -53161,6 +55311,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic fatigue and severe post-exertional exhaustion + 80–90% false @@ -53168,6 +55319,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Cognitive dysfunction ('brain fog') + 75–85% false @@ -53252,6 +55404,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Insidious, progressive exertional dyspnea + 85–95% false @@ -53259,6 +55412,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic, non-productive or mildly productive cough + 60–75% false @@ -53266,6 +55420,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Bibasilar inspiratory crackles + 50–60% false @@ -53273,6 +55428,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Weight loss, low-grade fevers, and cyanosis in advanced disease + 20–30% false @@ -53322,6 +55478,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Painless progressive visual blurriness / decrease in visual acuity + 80–90% false @@ -53329,6 +55486,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Vitreous floaters and haze + 65–75% false @@ -53336,6 +55494,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Visual field scotomas + 40–50% false @@ -53420,6 +55579,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Distal burning neuropathic pain in feet and lower extremities + 85–95% false @@ -53434,6 +55594,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Allodynia, dysesthesias, and hyperalgesia + 80–90% false @@ -53441,6 +55602,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autonomic symptoms (altered sweating, dry mouth/eyes, gastrointestinal dysmotility) + 50–65% false @@ -53623,6 +55785,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Harsh crescendo-decrescendo systolic murmur radiating to carotids + 90–95% false @@ -53630,6 +55793,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Progressive exertional dyspnea + 75–85% false @@ -53637,6 +55801,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Angina pectoris upon exertion + 40–50% false @@ -53644,6 +55809,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Exertional presyncope or syncope + 20–30% false @@ -53791,6 +55957,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Acute progressive external ophthalmoplegia / ophthalmoparesis + 95–100% false @@ -53798,6 +55965,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe central cerebellar and sensory ataxia + 90–95% false @@ -53805,6 +55973,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Altered consciousness / somnolence, stupor, or coma + 85–95% false @@ -53812,6 +55981,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Generalized hypo- or areflexia + 50–60% false @@ -53819,6 +55989,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Pyramidal tract signs / extensor plantar responses (Babinski sign) + 40–50% false @@ -53861,6 +56032,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Creamy yellow-orange hypopigmented choroidal spots radiating from optic disc + 95–100% false @@ -53868,6 +56040,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Vitreous floaters and hazy vision + 75–85% false @@ -53875,6 +56048,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Retinal arteriolar attenuation and vasculitis + 70–85% false @@ -53882,6 +56056,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Bilateral blurred vision / reduced visual acuity + 70–80% false @@ -53889,6 +56064,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Nyctalopia and diminished color discrimination + 50–65% false @@ -53973,6 +56149,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Widespread, tense subepidermal vesicles and bullae on sun-exposed and trunk areas + 85–95% false @@ -53987,6 +56164,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Mucosal blister formation and erosions + 40–50% false @@ -54414,6 +56592,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Early-onset interstitial lung disease / pulmonary hemorrhage + 90–100% false @@ -54421,6 +56600,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic non-erosive inflammatory polyarthritis + 80–90% false @@ -54428,6 +56608,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Recurrent hemoptysis and chronic cough + 50–60% false @@ -54435,6 +56616,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Immune complex-mediated glomerulonephritis + 40–50% false @@ -54547,6 +56729,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hypogammaglobulinemia with recurrent sinopulmonary bacterial infections + 80–90% false @@ -54554,6 +56737,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Benign lymphadenopathy and splenomegaly + 60–70% false @@ -54561,6 +56745,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe autoimmune enteropathy / lymphocytic colitis with chronic diarrhea + 50–60% false @@ -54568,6 +56753,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autoimmune cytopenias (refractory ITP, AIHA) + 40–50% false @@ -54575,6 +56761,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Lymphocytic interstitial lung disease + 30–40% false @@ -55177,6 +57364,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Unexplained primary or secondary infertility despite regular intercourse + 95–100% false @@ -55513,6 +57701,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Bilateral or unilateral painless lacrimal gland enlargement / dacryoadenitis + 70–85% false @@ -55520,6 +57709,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Upper eyelid fullness, edema, and ptosis + 60–70% false @@ -55527,6 +57717,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Painless proptosis and orbital pseudotumor mass + 40–55% false @@ -55534,6 +57725,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Diplopia due to extraocular muscle enlargement + 25–35% false @@ -55576,6 +57768,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Immune-related maculopapular dermatitis and vitiligo-like depigmentation + 40–50% false @@ -55583,6 +57776,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Immune-mediated colitis with severe watery diarrhea and abdominal cramps + 30–40% false @@ -55590,6 +57784,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autoimmune thyroid dysfunction: thyrotoxicosis followed by hypothyroidism + 15–25% false @@ -55597,6 +57792,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autoimmune hypophysitis with severe headache and fatigue + 5–10% false @@ -55604,6 +57800,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autoimmune hepatitis with marked transaminitis + 5–10% false @@ -55646,6 +57843,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe, intractable, watery secretory diarrhea beginning in early infancy + 95–100% false @@ -55653,6 +57851,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe failure to thrive and cachexia + 85–95% false @@ -55660,6 +57859,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Extensive eczematous or psoriasiform dermatitis + 70–80% false @@ -55667,6 +57867,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Early-onset type 1 diabetes mellitus in male infants + 60–70% false @@ -55674,6 +57875,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autoimmune thyroid disease (hypo- or hyperthyroidism) + 30–40% false @@ -55758,6 +57960,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Rapidly progressive, symmetric, severe proximal limb weakness + 90–95% false @@ -55772,6 +57975,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe neck flexor weakness and prominent dysphagia + 50–65% false @@ -55779,6 +57983,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Pronounced muscle atrophy and myalgias + 40–50% false @@ -55996,6 +58201,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic, recurrent diarrhea with or without visible blood/mucus + 80–90% false @@ -56003,6 +58209,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Cramping abdominal pain and lower abdominal tenderness + 70–85% false @@ -56010,6 +58217,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Rectal urgency, tenesmus, and fecal incontinence + 50–65% false @@ -56017,6 +58225,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Involuntary weight loss, malabsorption, and chronic fatigue + 50–60% false @@ -56024,6 +58233,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Extraintestinal manifestations (peripheral arthritis, uveitis, aphthae) + 25–35% false @@ -56066,6 +58276,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Recurrent, severe spontaneous neuroglycopenic hypoglycemia (confusion, coma, seizures) + 95–100% false @@ -56073,6 +58284,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Sympathetic adrenergic symptoms (sweating, palpitations, tremors) + 85–95% false @@ -56080,6 +58292,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hypoglycemia occurring primarily postprandially (2–4 hours after meal) or post-exercise + 70–80% false @@ -56164,6 +58377,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Progressive exertional dyspnea and exercise limitation + 80–95% false @@ -56171,6 +58385,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Bibasilar inspiratory fine Velcro-like crackles + 75–85% false @@ -56178,6 +58393,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Chronic, persistent dry non-productive cough + 70–85% false @@ -56185,6 +58401,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Systemic fatigue, asthenia, and chest tightness + 70–80% false @@ -56192,6 +58409,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Digital clubbing in advanced fibrotic variants + 20–40% false @@ -56485,6 +58703,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Early-onset refractory autoimmune enteropathy with chronic watery diarrhea + 70–85% false @@ -56492,6 +58711,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hypogammaglobulinemia with recurrent severe sinopulmonary infections + 65–75% false @@ -56499,6 +58719,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Massive hepatosplenomegaly and chronic lymphadenopathy + 60–70% false @@ -56506,6 +58727,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Autoimmune cytopenias (autoimmune thrombocytopenia, AIHA) + 55–65% false @@ -56513,6 +58735,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Lymphocytic interstitial lung disease + 40–50% false @@ -56835,6 +59058,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Asymmetric, slowly progressive distal motor weakness without sensory deficits (wrist/finger drop) + 90–100% false @@ -56842,6 +59066,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Asymmetric hyporeflexia confined to clinically weak muscles + 70–80% false @@ -56849,6 +59074,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Muscle fasciculations, myokymia, and muscle cramps + 60–75% false @@ -56856,6 +59082,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Focal muscle atrophy in chronically denervated muscle groups + 50–65% false @@ -57114,6 +59341,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Complete (third-degree) congenital heart block with severe fetal/neonatal bradycardia + 80–90% false @@ -57121,6 +59349,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Photosensitive annular or polycyclic erythematous facial rash ('raccoon/owl eyes') + 40–50% false @@ -57128,6 +59357,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Transient neonatal cholestasis and elevated hepatic transaminases + 15–25% false @@ -57135,6 +59365,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Transient neonatal thrombocytopenia or neutropenia + 15–20% false @@ -57422,6 +59653,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe, painful, refractory polymorphous stomatitis and extensive oral mucosal erosions + 95–100% false @@ -57429,6 +59661,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Polymorphic cutaneous eruptions: lichenoid, bullous, or targetoid lesions + 80–90% false @@ -57436,6 +59669,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe pseudomembranous conjunctivitis and genital erosions + 70–85% false @@ -57443,6 +59677,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Bronchiolitis obliterans leading to progressive, fatal respiratory failure + 30–40% false @@ -57492,6 +59727,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Sudden gross dark reddish-brown / cola-colored urine after cold exposure + 90–100% false @@ -57499,6 +59735,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Acute severe intravascular hemolytic anemia, pallor, and jaundice + 80–90% false @@ -57506,6 +59743,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Abrupt shaking chills, high fever, and back/flank or abdominal pain + 75–85% false @@ -58038,6 +60276,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Marked bilateral dependent peripheral pitting edema and anasarca + 85–95% false @@ -58045,6 +60284,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe hypoalbuminemia (<3.0 g/dL) + 85–95% false @@ -58052,6 +60292,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Heavy nephrotic-range proteinuria (>3.5 g/24h) with foamy urine + 80–90% false @@ -58059,6 +60300,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Hyperlipidemia and lipiduria + 70–80% false @@ -58066,6 +60308,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and High incidence of deep venous thrombosis or renal vein thrombosis + 10–20% false @@ -59228,6 +61471,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe, extensive, photosensitive cutaneous lesions + Gottron's papules: 80–90%, heliotrope rash: 70–80% false @@ -59235,6 +61479,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Symmetrical proximal muscle weakness + 70–80% false @@ -59242,6 +61487,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Prominent 'V-sign', 'shawl sign', and extensive poikiloderma + 65–75% false @@ -59256,6 +61502,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe dysphagia + 50–60% false @@ -59263,6 +61510,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Palmar hyperkeratotic papules / inverse Gottron's + 35–45% false @@ -59270,6 +61518,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and 'Flagellate erythema' on trunk + 30–40% false @@ -59382,6 +61631,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Severe, refractory hyperglycemia despite extreme doses of exogenous insulin (>1,000 U/day) + 95–100% false @@ -59389,6 +61639,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Rapidly progressive, extensive, velvety acanthosis nigricans in skin folds + 80–90% false @@ -59396,6 +61647,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Unexplained marked involuntary weight loss + 60–70% false @@ -59410,6 +61662,7 @@ A third type of PRCA, Diamond-Blackfan syndrome, is due to genetic mutation and Signs of hyperandrogenism (severe hirsutism, virilization, amenorrhea) in women + 50–60% false