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Hypochondroplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Hypercalcemic tumoral calcinosis

1 OMIM reference -
3 associated genes
No signs/symptoms info

Hypochondroplasia

Hypercalcemic tumoral calcinosis

FGFR3	(UniProt - OMIM)		FGF23	(UniProt - OMIM)
			GALNT3	(UniProt - OMIM)
			KL	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.52)	FGF23

Citations in the biomedical literature:

Hypochondroplasia		Hypercalcemic tumoral calcinosis
	Synonym(s): (no synonyms)		Synonym(s): - GALNT3-CDG

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

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

Hypochondroplasia
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Elbow anomalies(excluding luxation) - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Genu varum - Hyperextensible joints / articular hyperlaxity - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Intellectual deficit / mental / psychomotor retardation / learning disability - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Rachidian / spine canal stenosis - Scoliosis
Hypercalcemic tumoral calcinosis
(no data available)