trichorhinophalangeal syndrome type I
(Q18553302)
autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)
autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)
Language:
Current Data About
trichorhinophalangeal syndrome type I
| (P31) |
(Q112193867)
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| (P279) |
(Q18553439)
(Q3508794) (Q179630)
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| (P1748) |
C75109
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| (P2293) |
(Q15323140)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_14743
http://identifiers.org/doid/DOID:14743
http://www.orpha.net/ORDO/Orphanet_77258 http://purl.obolibrary.org/obo/DOID_0080048
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| (P5008) |
(Q4099686)
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other details
| aliases |
type I trichorhinophalangeal syndrome Sugio-Kajii syndrome Trichorhinophalangeal dysplasia type I trichorhinophalangeal syndrome type 1 trichorhinophalangeal syndrome I |
| description | autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly) |
External Links
| (P486) |
C536820
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| (P699) |
DOID:14743
DOID:0080048 |
| (P1550) |
77258
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| (P2892) |
C0432233
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| (P4229) |
Q87.1
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| (P4317) |
7800
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| (P5270) |
MONDO_0019176
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