acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia that has material basis in mutation in AMDH gene which results in normal axial skeleton but fused bones in the located in hand or located in foot
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acromesomelic dysplasia, Hunter-Thompson type
Summary
acromesomelic dysplasia, Hunter-Thompson type is a developmental defect during embryogenesis[1].
Key Facts
- acromesomelic dysplasia, Hunter-Thompson type's instance of is recorded as developmental defect during embryogenesis[2].
- acromesomelic dysplasia, Hunter-Thompson type's instance of is recorded as rare disease[3].
- acromesomelic dysplasia, Hunter-Thompson type's instance of is recorded as class of disease[4].
- acromesomelic dysplasia, Hunter-Thompson type's subclass of is recorded as acromesomelic dysplasia[5].
- acromesomelic dysplasia, Hunter-Thompson type's subclass of is recorded as autosomal recessive disease[6].
- acromesomelic dysplasia, Hunter-Thompson type's OMIM ID is recorded as 201250[7].
- acromesomelic dysplasia, Hunter-Thompson type's Disease Ontology ID is recorded as DOID:0080051[8].
- acromesomelic dysplasia, Hunter-Thompson type's Orphanet ID is recorded as 968[9].
- acromesomelic dysplasia, Hunter-Thompson type's genetic association is recorded as GDF5[10].
- acromesomelic dysplasia, Hunter-Thompson type's Google Knowledge Graph ID is recorded as /g/11fj7hxltd[11].
- acromesomelic dysplasia, Hunter-Thompson type's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080051[12].
- acromesomelic dysplasia, Hunter-Thompson type's exact match is recorded as http://identifiers.org/doid/DOID:0080051[13].
- acromesomelic dysplasia, Hunter-Thompson type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_968[14].
- acromesomelic dysplasia, Hunter-Thompson type's UMLS CUI is recorded as C2930970[15].
- acromesomelic dysplasia, Hunter-Thompson type's ICD-10-CM is recorded as Q78.8[16].
- acromesomelic dysplasia, Hunter-Thompson type's GARD rare disease ID is recorded as 506[17].
- acromesomelic dysplasia, Hunter-Thompson type's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- acromesomelic dysplasia, Hunter-Thompson type's Mondo ID is recorded as MONDO_0008717[19].
- acromesomelic dysplasia, Hunter-Thompson type's UniProt disease ID is recorded as DI-00032[20].