loading...| Preferred Name |
split hand |
|
| Synonyms |
split hand (disease) ectrodactyly of hand split hand |
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| Definitions |
Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017449 |
|
| database_cross_reference |
Orphanet:294992 HP:0001171 |
|
| definition |
Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. |
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| has_exact_synonym |
split hand (disease) ectrodactyly of hand split hand |
|
| IAO_0000233 | ||
| IAO_0000589 |
split hand (disease) |
|
| id |
MONDO:0017449 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly |
|
| label |
split hand |
|
| notation |
MONDO:0017449 |
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| preferred label |
split hand |
|
| prefLabel |
split hand |
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| subClassOf |