| Domain | Phenotype | Barron 2022 NIH cohort (n=58 evaluated) | Dzhus 2023 review (n=628) | Melo 2023 Brazil (n=18) | Ashari 2023 Iran (n=11) | Suggested HPO term(s) | Suggested UBERON anatomy | Evidence source / citation placeholder |
|---|---|---:|---:|---:|---:|---|---|---|
| Skin / vascular | Livedo racemosa / reticularis | 43/58 (74%) livedo racemosa | Included as core phenotype; no pooled % in excerpt | 11/18 (62%) livedo reticularis | 11/11 (100%) livedo racemosa/reticularis | HP:0005344 Livedo reticularis; livedo racemosa (term name if preferred) | UBERON:0002097 skin | Barron cohort; Dzhus review; Brazil and Iran cohorts (pqac-00000022, pqac-00000024, pqac-00000026, pqac-00000023, pqac-00000005) |
| Skin / vascular | Cutaneous ulcers / ulcerating lesions | 3/58 (5%) ulcerating lesions; additional severe digital ulceration described | Ulcerations/cutaneous necrosis listed; no pooled % in excerpt | GI/skin ulcers reported; explicit skin-ulcer % not provided | Not specified | HP:0200042 Skin ulcer; HP:0008066 Cutaneous necrosis | UBERON:0002097 skin; distal digit (term name) | Barron cohort; 2024 review; Brazil cohort (pqac-00000022, pqac-00000025, pqac-00000021, pqac-00000023) |
| Skin / vascular | Raynaud phenomenon | 13/58 (22%) | Mentioned in broader DADA2 literature; no pooled % in excerpt | Not specified | Not specified | HP:0001945 Raynaud phenomenon | UBERON:0002398 hand; UBERON:0002104 foot; peripheral vasculature | Barron cohort (pqac-00000022) |
| CNS | Any stroke / cerebrovascular event | 25/58 (43%) total strokes; ischemic 24/58 (41%), hemorrhagic 7/58 (12%) | Neurological event in 50.3%; among neurological cases, 77.5% had cerebrovascular accident | Neurologic involvement 16/18 (89%); ischemic stroke 11/18 (61%); hemorrhagic stroke 1/18 (5%) | 7/11 (64%) strokes | HP:0001297 Stroke; HP:0002140 Ischemic stroke; intracranial hemorrhage / cerebral hemorrhage (term name) | UBERON:0000955 brain; cerebral vasculature (term name) | Barron cohort; Dzhus review; Brazil and Iran cohorts (pqac-00000022, pqac-00000024, pqac-00000026, pqac-00000023, pqac-00000005) |
| CNS | Ischemic stroke | 24/58 (41%) | Lacunar strokes most common; 35.9% had multiple strokes | 11/18 (61%) | Included within 7/11 stroke total; ischemic subtype not explicitly separated in excerpt | HP:0002140 Ischemic stroke; lacunar stroke (term name) | UBERON:0000955 brain | Barron cohort; Dzhus review; Brazil and Iran cohorts (pqac-00000022, pqac-00000024, pqac-00000026, pqac-00000023, pqac-00000005) |
| CNS | Hemorrhagic stroke | 7/58 (12%) | Early-onset hemorrhagic stroke recognized; no pooled % in excerpt | 1/18 (5%) | Not specified separately | HP:0001342 Intracranial hemorrhage; cerebral hemorrhage (term name) | UBERON:0000955 brain | Barron cohort; Dzhus review; Brazil cohort (pqac-00000022, pqac-00000024, pqac-00000026, pqac-00000023) |
| CNS anatomy | Brainstem / deep gray matter predilection | ~3/4 of strokes in brainstem, cerebellum, deep brain nuclei | Brainstem 37.3% and deep gray matter 41.6% of ischemic strokes | Not quantified | Not quantified | HP: brainstem lesion / deep gray matter infarction (term names) | UBERON:0002298 brainstem; deep gray matter / basal ganglion / thalamus (term names) | Barron cohort; Dzhus review (pqac-00000024, pqac-00000026, pqac-00000021) |
| Hematologic | Cytopenias (any) | 28/58 (48%) | Cytopenias part of phenotype; no pooled % in excerpt | Persistent neutropenia described in individual cases; no overall cytopenia % in excerpt | PRCA in 1/11; broader cytopenias recognized but no cohort-wide % except PRCA | HP:0001871 Abnormality of blood and blood-forming tissues; cytopenia (term name) | UBERON:0002371 bone marrow; blood | Barron cohort; review; Brazil/Iran cohorts (pqac-00000024, pqac-00000021, pqac-00000023, pqac-00000005) |
| Hematologic | Pure red cell aplasia (PRCA) | Mentioned as key hematologic feature; frequency not explicit in excerpt | Recognized phenotype; no pooled % in excerpt | Not specified in excerpt | 1/11 (9%) PRCA | HP:0004810 Pure red cell aplasia | UBERON:0002371 bone marrow | Barron cohort; 2024 review; Iran cohort (pqac-00000001, pqac-00000021, pqac-00000005) |
| Hematologic | Pancytopenia | 6/58 (10%) | Listed as part of phenotype; no pooled % in excerpt | Not specified | Not specified | HP:0001876 Pancytopenia | UBERON:0002371 bone marrow; blood | Barron cohort; 2024 review (pqac-00000024, pqac-00000021) |
| Hematologic | Severe anemia / neutropenia / thrombocytopenia | Severe anemia 7/58 (12%); immune neutropenia 9/58 (16%); thrombocytopenia 5/58 (9%) | Anemia, neutropenia, thrombocytopenia recognized; no pooled % in excerpt | Persistent neutropenia in at least one case; no summary % in excerpt | Not specified beyond PRCA case | HP:0001903 Anemia; HP:0001875 Neutropenia; HP:0001873 Thrombocytopenia | UBERON:0000178 blood; UBERON:0002371 bone marrow | Barron cohort; reviews/cohorts (pqac-00000024, pqac-00000021, pqac-00000023, pqac-00000005) |
| Immunologic | Hypogammaglobulinemia / quantitative immunoglobulin abnormality | 38/58 (66%) abnormal immunoglobulins | Common feature; ranges from mild hypo-Ig to CVID-like disease | Hypogammaglobulinemia described in P1, P2, P16, P18 (4/18 noted in excerpt) | 2/11 (18%) decreased immunoglobulin levels | HP:0004313 Decreased circulating immunoglobulin level; HP:0002721 Hypogammaglobulinemia | Blood / plasma (UBERON term name if needed) | Barron cohort; 2024 review; Brazil and Iran cohorts (pqac-00000022, pqac-00000025, pqac-00000021, pqac-00000023, pqac-00000005) |
| Immunologic | Low IgG | 32/58 (55%) | Recognized; no pooled % in excerpt | Not specified | Not specified | HP:0012147 Decreased IgG level | Blood / plasma | Barron cohort (pqac-00000022, pqac-00000025) |
| Immunologic | Low IgM | 36/58 (62%) | Recognized; no pooled % in excerpt | Not specified | Not specified | HP:0012149 Decreased IgM level | Blood / plasma | Barron cohort (pqac-00000022, pqac-00000025) |
| Immunologic | Low IgA | 25/58 (43%) | Recognized; no pooled % in excerpt | Not specified | Not specified | HP:0012148 Decreased IgA level | Blood / plasma | Barron cohort (pqac-00000022, pqac-00000025) |
| Immunologic | Low class-switched memory B cells | 32/47 (68%) | Reduced memory B cells emphasized; no pooled % in excerpt | Not specified | Not specified | Low class-switched memory B cells (term name) | CL:0000788 memory B cell | Barron cohort; 2024 review (pqac-00000024, pqac-00000025, pqac-00000021) |
| Visceral | Hepatomegaly / splenomegaly / hepatosplenomegaly | Hepatomegaly 29/58 (50%); splenomegaly 31/58 (53%); hepatosplenomegaly 22/58 (38%) | Lymphadenopathy/hepatosplenomegaly in up to 30% | Hepatomegaly with splenomegaly 4/18 (23%); isolated splenomegaly 2/18 (12%) | Not specified in excerpt | HP:0002240 Hepatomegaly; HP:0001744 Splenomegaly | UBERON:0002107 liver; UBERON:0002106 spleen | Barron cohort; 2024 review; Brazil cohort (pqac-00000022, pqac-00000021, pqac-00000023) |
| Visceral | Portal hypertension | 7/58 (12%) | Non-cirrhotic portal hypertension described | Not specified | Not specified | HP:0001406 Portal hypertension | UBERON:0002107 liver; portal venous system (term name) | Barron cohort; 2024 review (pqac-00000022, pqac-00000021) |
| Visceral / renal | Renal cortical lesions | 13/58 (22%) | Kidney involvement recognized; no pooled % in excerpt | Not specified | Not specified | Renal cortical lesion (term name); HP:0000107 Renal cyst? (do not use if uncertain) | UBERON:0001225 kidney; renal cortex (term name) | Barron cohort; Dzhus review (pqac-00000022, pqac-00000026) |
| Visceral / GI | Colitis / gastrointestinal ulcers | Not specifically quantified in NIH excerpt | Intestinal involvement, abdominal pain, bowel perforation recognized | GI involvement 8/18 (45%); abdominal pain 8/18 (45%); colitis/GI ulcers 2/18 (11%) | Not specified | HP:0002012 Abnormality of the gastrointestinal tract; colitis / gastrointestinal ulceration (term names) | UBERON:0002108 small intestine; UBERON:0001155 colon; GI mucosa (term names) | Dzhus review; Brazil cohort (pqac-00000026, pqac-00000023) |


*Table: This table summarizes major DADA2 phenotypes across key cohorts and reviews, with best-effort ontology mappings to HPO and UBERON terms. It is useful for structured knowledge-base curation of phenotype prevalence, affected anatomy, and ontology alignment.*