ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
30 signs/symptoms

Brachydactyly type E

Chondrodysplasia, Blomstrand type

HOXD13	(UniProt - OMIM)		PTH1R	(UniProt - OMIM)
PTHLH	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTHLH	(0.85)	PTH1R

Citations in the biomedical literature:

Brachydactyly type E		Chondrodysplasia, Blomstrand type
	Synonym(s): (no synonyms)		Synonym(s): - BLC - Blomstrand lethal chondrodysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537914


COMMON SIGNS	- Metacarpal anomalies / Archibald's sign - Short stature / dwarfism / nanism

Brachydactyly type E		Chondrodysplasia, Blomstrand type
	Very frequent - Autosomal dominant inheritance Frequent - Hyperextensible joints / articular hyperlaxity - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Frontal bossing / prominent forehead - Macrocephaly / macrocrania / megalocephaly / megacephaly - Upper limb asymmetry / hemiatrophy / hemihypertrophy		Very frequent - Abnormal vertebral size / shape - Advanced bone age - Autosomal recessive inheritance - Clavicle absent / abnormal - Depressed nasal bridge - Epiphyseal anomaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Osteosclerosis / osteopetrosis / bone condensation - Polyhydramnios - Prematurity - Proptosis / exophthalmos - Rib structure anomalies - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Stillbirth / neonatal death Frequent - Anteverted nares / nostrils - Bowed diaphysis / diaphyses / long bones - Cataract / lens opacification - Hydrops fetalis - Long philtrum - Macroglossia / tongue protrusion / proeminent / hypertrophic - Premature eruption of teeth / natal teeth - Synostosis