Atelosteogenesis, type II

Preferred Label : Atelosteogenesis, type II;

Symbol : AO2;

CISMeF acronym : AOII; AO2; DLCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neonatal osseous dysplasia I; AOII;

Included titles and symbols : De la chapelle dysplasia; DLCD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, 606718.0002);

Laboratory abnormalities : Lacunar halos around chondrocytes in skeletal cartilage;

Prefixed ID : #256050;

Details

Origin ID

256050;

UMLS CUI

C1850554;

Automatic exact mappings (from CISMeF team)
- optic atrophy, X-linked [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Atelosteogenesis type 2 [MeSH concept]
- Atelosteogenesis type 2 (disorder) [SNOMED CT concept]
- Atelosteogenesis type II [ORDO Disease]
- De la Chapelle dysplasia [ICD-11 More detail]
- atelosteogenesis type 2 [Disease (Nov.)]
- atelosteogenesis type 2 [MeSH Supplementary Concept]
- de la chapelle dysplasia [MeSH concept]
DO Cross reference
- atelosteogenesis [DO Concept]
Genes related to phenotype
- Solute carrier family 26 (sulfate transporter), member 2 [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid humerus [HPO term]
- Cervical kyphosis [HPO term]
- Cleft palate [HPO term]
- Coronal cleft vertebrae [HPO term]
- Death in infancy [HPO term]
- Depressed nasal bridge [HPO term]
- Dumbbell-shaped femur [HPO term]
- Flat acetabular roof [HPO term]
- Flattened nasal bridge [HPO term]
- Hitchhiker thumb [HPO term]
- Horizontal sacrum [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Increased intervertebral space [HPO term]
- Lacunar halos around chondrocytes [HPO term]
- Limb undergrowth [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Midface retrusion [HPO term]
- Platyspondyly [HPO term]
- Pulmonary hypoplasia [HPO term]
- Respiratory insufficiency [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Short greater sciatic notch [HPO term]
- Short middle phalanx of finger [HPO term]
- Short neck [HPO term]
- Stillbirth [HPO term]
- Stillborn or death shortly after birth [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic hypoplasia [HPO term]
ORDO concept(s)
- Atelosteogenesis type II [ORDO Disease]
See also inter- (CISMeF)
- atelosteogenesis type 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atelosteogenesis type 2 [MeSH concept]
- Atelosteogenesis type 2 (disorder) [SNOMED CT concept]
- Atelosteogenesis type II [ORDO Disease]
- De la Chapelle dysplasia [ICD-11 More detail]
- atelosteogenesis type 2 [MeSH Supplementary Concept]
- atelosteogenesis type 2 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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