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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/225790
http://purl.bioontology.org/ontology/OMIM/225790
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|---|---|
| Preferred Name | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME |
| Synonyms |
HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY
FOWLER SYNDROME
ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY
PVHH
HYDRANENCEPHALY, FOWLER TYPE
EPV
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY
FOWLER SYNDROME
ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY
PVHH
HYDRANENCEPHALY, FOWLER TYPE
EPV
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|---|---|
| prefLabel | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME
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| Gene Symbol |
CCT
FLVCR2
C14orf58
PVHH
EPV
|
| Scope Statement | Affected individuals may rarely survive [MISCELLANEOUS]
Variable clinical presentation [MISCELLANEOUS]
Diagnosis occurs between 23 and 33 weeks' gestation [MISCELLANEOUS]
Stillborn or neonatal death [MISCELLANEOUS]
Caused by mutation in the FLVCR heme transporter 2 gene (FLVCR2, 610865.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 14q24.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 225790
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2931462
C1856972
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |