Disease: Atelosteogenesis, Type Ii

Name Atelosteogenesis, Type Ii

Synonyms AOII , NEONATAL OSSEOUS DYSPLASIA I | DE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED

Classification bone, developmental, genetic, neurological, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial

Phenotypes Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Cervical kyphosis; Cleft palate; Coronal cleft vertebrae; Depressed nasal bridge; Dumbbell-shaped femur; Flat acetabular roof; Horizontal sacrum; Lumbar hyperlordosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Platyspondyly; Pulmonary hypoplasia; Respiratory insufficiency; Sandal gap; Scoliosis; Short middle phalanx of finger; Short neck; Short sacroiliac notch; Stillbirth; Talipes equinovarus; Thoracic hypoplasia

Associated Genes SLC26A2 (Withdrawn symbols: DTD, DTDST )

Mouse Orthologs Slc26a2 (Withdrawn symbols: Dtd )

Source OMIM:256050 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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