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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/213980
http://purl.bioontology.org/ontology/OMIM/213980
|
|---|---|
| Preferred Name | CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 |
| Synonyms |
CFSMR
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
CEREBROFACIOTHORACIC DYSPLASIA
CFSMR1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CFSMR
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
CEREBROFACIOTHORACIC DYSPLASIA
CFSMR1
|
|---|---|
| prefLabel | CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1
|
| Gene Symbol |
TMCO1
CFSMR1
|
| Scope Statement | Patients from Old Order Amish community and Turkey have been reported [MISCELLANEOUS]
Caused by mutation in the transmembrane and coiled-coil domains protein 1 gene (TMCO1, 614123.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
Onset prenatally or at birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q24.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 213980
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5677021
C1859252
|
| Moved from | 614132
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |