loading...| Preferred Name | acromesomelic dysplasia 2A | |
| Synonyms |
achondrogenesis type II (formerly) achondrogenesis, type II, formerly achondrogenesis, type II achondrogenesis, Brazilian Brazilian achondrogenesis hypochondrogenesis Grebe syndrome AMDG type II achondrogenesis GREBE chondrodysplasia acromesomelic dysplasia, Grebe type acromesomelic dysplasia 2A Langer-Saldino achondrogenesis Grebe chondrodysplasia chondrodysplasia, Grebe type Grebe dysplasia |
|
| Definitions |
An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008703 |
|
| database_cross_reference |
Orphanet:2098 OMIM:200700 DOID:0080052 NANDO:2201346 NANDO:2201345 UMLS:C0265260 MEDGEN:75557 GARD:1300 NCIT:C3816 |
|
| definition |
An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. |
|
| has_exact_synonym |
type II achondrogenesis GREBE chondrodysplasia acromesomelic dysplasia, Grebe type acromesomelic dysplasia 2A Langer-Saldino achondrogenesis Grebe chondrodysplasia chondrodysplasia, Grebe type Grebe dysplasia |
|
| has_related_synonym |
achondrogenesis type II (formerly) achondrogenesis, type II, formerly achondrogenesis, type II achondrogenesis, Brazilian Brazilian achondrogenesis hypochondrogenesis Grebe syndrome AMDG |
|
| IAO_0000233 | ||
| id |
MONDO:0008703 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
acromesomelic dysplasia 2A |
|
| notation |
MONDO:0008703 |
|
| preferred label |
acromesomelic dysplasia 2A |
|
| prefLabel |
acromesomelic dysplasia 2A |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0265260 http://purl.obolibrary.org/obo/Orphanet_2098 http://purl.obolibrary.org/obo/NCIT_C3816 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0008703 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0008703 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0008703 | DOVES | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/200700 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008703 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008703 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008703 | DOVES | LOOM |