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
..Delayed ossification of carpal bones (HP:0001216)

Term ID:

1216

Name:

Delayed ossification of carpal bones

Synonym:

Carpal delayed ossification; Delayed carpal bone age; Delayed carpal ossification; Delayed maturation of carpal bones; Delayed maturation of wrist bone

Definition:

Ossification of carpal bones occurs later than age-adjusted norms.

Comments:

Reference:

HP:0001216

Genes and Diseases:

Child Nodes:

........

Delayed ossification of the scaphoid (HP:0004246)

........

Delayed ossification of the trapezium (HP:0004254)

........

Delayed ossification of the trapezoid bone (HP:0004257)

........

Severe carpal ossification delay (HP:0006069)

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)

Advanced ossification of carpal bones (HP:0004233)

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:0001216	HP:0001216	Delayed ossification of carpal bones	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional	284
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.	32
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0001216	HP:0001216	Delayed ossification of carpal bones	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.	2
HP:0001216	HP:0004257	Delayed ossification of the trapezoid bone	1	CL E G H
HP:0001216	HP:0004254	Delayed ossification of the trapezium	1	CL E G H
HP:0001216	HP:0004246	Delayed ossification of the scaphoid	1	CL E G H

Genes (16) :BGN COL2A1 EXOC6B EXTL3 HOXA13 IHH LONP1 MATN3 MBTPS1 PIGV PTH1R RMRP TONSL TRIP11 TRPV4 UFSP2

Diseases (16) :OMIM:300106 ORPHA:93346 OMIM:618395 OMIM:617425 OMIM:140000 OMIM:607778 OMIM:600373 OMIM:607078 OMIM:618392 OMIM:239300 OMIM:600002 OMIM:607095 OMIM:271510 OMIM:184260 OMIM:184252 OMIM:617974

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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