acromesomelic dysplasia, Grebe type
acromesomelic dysplasia that has material basis in mutation in CDMP-1 which results in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones
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acromesomelic dysplasia, Grebe type
Summary
acromesomelic dysplasia, Grebe type is a developmental defect during embryogenesis[1].
Key Facts
- acromesomelic dysplasia, Grebe type's instance of is recorded as developmental defect during embryogenesis[2].
- acromesomelic dysplasia, Grebe type's instance of is recorded as rare disease[3].
- acromesomelic dysplasia, Grebe type's instance of is recorded as genetic disease[4].
- acromesomelic dysplasia, Grebe type's instance of is recorded as class of disease[5].
- acromesomelic dysplasia, Grebe type is a type of acromesomelic dysplasia[6].
- acromesomelic dysplasia, Grebe type is a type of autosomal recessive disease[7].
- acromesomelic dysplasia, Grebe type's NCI Thesaurus ID is recorded as C3816[8].
- acromesomelic dysplasia, Grebe type's genetic association is recorded as GDF5[9].
- acromesomelic dysplasia, Grebe type's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080052[10].
- acromesomelic dysplasia, Grebe type's exact match is recorded as http://identifiers.org/doid/DOID:0080052[11].
- acromesomelic dysplasia, Grebe type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2098[12].
- acromesomelic dysplasia, Grebe type's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].