Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal carpal morphology (HP:0001191)

Grandparent Node:
Abnormal hand bone ossification (HP:0010660)

Parent Node:
Abnormality of carpal bone ossification (HP:0006257)

..Starting node
..Advanced ossification of carpal bones (HP:0004233)

Term ID:

4233

Name:

Advanced ossification of carpal bones

Synonym:

Accelerated carpal bone maturation; Accelerated wrist bone maturation; Advanced carpal bone age; Advanced carpal ossification; Precociously ossified carpal bones

Definition:

Ossification of carpal bones at an abnormally early age.

Comments:

Reference:

HP:0004233

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal calcification of the carpal bones (HP:0009164)

Abnormal ossification of the trapezium (HP:0045001)

Abnormal ossification of the trapezoid bone (HP:0045004)

Absent trapezium (HP:0004253)

Delayed ossification of carpal bones (HP:0001216)

Multiple carpal ossification centers (HP:0006067)

Two carpal ossification centers present at birth (HP:0006176)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0004233	HP:0004233	Advanced ossification of carpal bones	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14

Genes (7) :B3GALT6 CANT1 PTH1R SETD2 SLC10A7 SLC35D1 XYLT1

Diseases (9) :OMIM:615349 OMIM:271640 OMIM:251450 OMIM:617719 OMIM:215045 OMIM:616831 OMIM:618363 OMIM:269250 OMIM:615777

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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