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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/208500
http://purl.bioontology.org/ontology/OMIM/208500
|
|---|---|
| Preferred Name | SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY |
| Synonyms |
ATD1
ASPHYXIATING THORACIC DYSTROPHY 1
JEUNE SYNDROME
THORACIC-PELVIC-PHALANGEAL DYSTROPHY
SRTD1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ATD1
ASPHYXIATING THORACIC DYSTROPHY 1
JEUNE SYNDROME
THORACIC-PELVIC-PHALANGEAL DYSTROPHY
SRTD1
|
|---|---|
| prefLabel | SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY
|
| Gene Symbol |
SRTD1
ATD1
|
| Scope Statement |
Death in infancy secondary to pulmonary insufficiency [MISCELLANEOUS]
Survivors may develop renal insufficiency and hepatic dysfunction [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Frequency 1/100,000 - 1/130,000 live births [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui |
T047
T019
|
| Gene Locus | 15q13
|
| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
|
| notation | 208500
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4551856
C0265275
|
| OMIM Entry Type | 5
|
| OMIM MimType Value | perc
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |