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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/249420
http://purl.bioontology.org/ontology/OMIM/249420
|
|---|---|
| Preferred Name | FRANK-TER HAAR SYNDROME |
| Synonyms |
MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
TER HAAR SYNDROME
FTHS
BORRONE DERMATOCARDIOSKELETAL SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
TER HAAR SYNDROME
FTHS
BORRONE DERMATOCARDIOSKELETAL SYNDROME
|
|---|---|
| prefLabel | FRANK-TER HAAR SYNDROME
|
| Gene Symbol |
KIAA1295
SH3PXD2B
FTHS
TKS4
|
| Scope Statement | Caused by mutation in the SH3 and PX domains-containing protein 2B gene (SH3PXD2B, 613293.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q35.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 249420
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1855305
|
| Moved from | 211170
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |