General Information
Term	split hand-foot malformation	ID (Ontology)	DOID:0090020 (Human Disease)
Definition	A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
Also Known As	"lobster-claw deformity" ; "split-hand deformity"
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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General Information

Term

split hand-foot malformation

ID (Ontology)

DOID:0090020 (Human Disease)

Definition

A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Also Known As

"lobster-claw deformity" ; "split-hand deformity"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

  bone disease
   |__bone development disease
       |__split hand-foot malformation  3 rec.
           |__split hand-foot malformation 1 1 rec.
           |__split hand-foot malformation 1 with sensorineural hearing loss 1 rec.
           |__split hand-foot malformation 2
           |__split hand-foot malformation 3
           |__split hand-foot malformation 4 1 rec.
           |__split hand-foot malformation 5
           |__split hand-foot malformation 6 1 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	bone development disease
Part of
Synonyms & Secondary IDs
Synonyms
	"lobster-claw deformity" EXACT "split-hand deformity" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:6319 MESH:C574275 MIM:PS183600 NCI:C75000 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554

Spanning Tree View Settings

Parents/Children
View Depth

Relationships

Is a

bone development disease

Part of

Synonyms & Secondary IDs

Synonyms

"lobster-claw deformity" EXACT
"split-hand deformity" EXACT

Secondary IDs

External Crossreferences & Linkouts

GARD:6319
MESH:C574275
MIM:PS183600
NCI:C75000
ORDO:2440
SNOMEDCT_US_2023_03_01:81208006
UMLS_CUI:C0265554