ADAMS-OLIVER SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 616028
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
2
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
3
 (HPO:0001159) Syndactyly 140 / 7739
4
 (HPO:0001744) Splenomegaly rare [HPO:skoehler] 337 / 7739
5
 (HPO:0001537) Umbilical hernia rare [HPO:skoehler] 206 / 7739
6
 (HPO:0001971) Hypersplenism rare [HPO:skoehler] 8 / 7739
7
 (HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
8
 (HPO:0002040) Esophageal varix rare [HPO:skoehler] 23 / 7739
9
 (HPO:0001048) Cavernous hemangioma 28 / 7739
10
 (HPO:0001057) Aplasia cutis congenita rare [HPO:skoehler] 7 / 7739
11
 (HPO:0001810) Dystrophic toenail 9 / 7739
12
 (HPO:0001642) Pulmonic stenosis 89 / 7739
13
 (HPO:0002092) Pulmonary hypertension 109 / 7739
14
 (HPO:0001667) Right ventricular hypertrophy 23 / 7739
15
 (HPO:0030242) Portal vein thrombosis rare [HPO:skoehler] 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: