Human Phenotype Ontology

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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:
Deviation of the hand or of fingers of the hand (HP:0009484)

Parent Node:
Ulnar deviation of the hand or of fingers of the hand (HP:0001193)

..Starting node
..Ulnar deviation of the hand (HP:0009487)

Term ID:

9487

Name:

Ulnar deviation of the hand

Synonym:

Ulnar deviation of hands; Ulnar deviation of the hands

Definition:

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).

Comments:

Reference:

HP:0009487

Genes and Diseases:

Child Nodes:

........

Ulnar deviated club hands (HP:0006055)

Sister Nodes:

Ulnar deviation of finger (HP:0009465)

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:0009487	HP:0009487	Ulnar deviation of the hand	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3		166
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0009487	HP:0009487	Ulnar deviation of the hand	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0009487	HP:0006055	Ulnar deviated club hands	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0009487	HP:0006055	Ulnar deviated club hands	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0009487	HP:0006055	Ulnar deviated club hands	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0009487	HP:0006055	Ulnar deviated club hands	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880

Genes (26) :ADGRG6 ALG9 ASXL3 B9D2 CILK1 COL9A1 COL9A2 COL9A3 COMP DPYSL5 FLNA LAMA5 LBR MAFB MAN2C1 MAP3K7 MED12 MUSK MYH3 PAX3 PCDHGC4 PEX1 RBM28 RBM8A SLC26A2 ZEB2

Diseases (27) :OMIM:616503 ORPHA:79328 OMIM:263210 OMIM:615485 OMIM:614175 OMIM:612651 ORPHA:166002 OMIM:177170 OMIM:619435 ORPHA:1826 OMIM:620076 OMIM:215140 OMIM:166300 OMIM:619775 OMIM:617137 OMIM:300895 OMIM:208150 OMIM:618436 OMIM:122880 OMIM:619880 OMIM:214100 OMIM:612079 ORPHA:157954 OMIM:274000 ORPHA:93307 ORPHA:261552 ORPHA:261537

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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