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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601360
http://purl.bioontology.org/ontology/OMIM/601360
|
|---|---|
| Preferred Name | AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME |
| Synonyms |
AMELIA, AUTOSOMAL RECESSIVE
PAPPAS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMELIA, AUTOSOMAL RECESSIVE
PAPPAS
|
|---|---|
| prefLabel | AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME
|
| Gene Symbol |
PAPPAS
ICPPS
TBX4
|
| Scope Statement | Based primarily on postmortem examination of 1 fetus [MISCELLANEOUS]
Heterozygous carrier parents have ischiocoxopodopatellar syndrome (ICPPS, 147891) [MISCELLANEOUS]
Caused by mutation in the T-box-4 gene (TBX4, 601719.0010) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q21-q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 601360
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1832432
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |