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:
Abnormality of the hand (HP:0001155)

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

..Starting node
..Ulnar deviation of the hand or of fingers of the hand (HP:0001193)

Term ID:

1193

Name:

Ulnar deviation of the hand or of fingers of the hand

Synonym:

Definition:

Comments:

Reference:

HP:0001193

Genes and Diseases:

Child Nodes:

........

Ulnar deviation of finger (HP:0009465)

................... HP:0006156 Ulnar deviation of thumb
................... HP:0009180 Ulnar deviation of the 5th finger
................... HP:0009278 Ulnar deviation of the 4th finger
................... HP:0009463 Ulnar deviation of the 3rd finger
................... HP:0009464 Ulnar deviation of the 2nd finger

........

Ulnar deviation of the hand (HP:0009487)

................... HP:0006055 Ulnar deviated club hands

Sister Nodes:

Deviation of finger (HP:0004097)

Radial deviation of the hand or of fingers of the hand (HP:0009485)

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:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		38
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C		90
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		3
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C		52
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5		25
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1		66
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3		166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1		166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome		166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1		48
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome		48
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome		59
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.	77
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia		66
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1		37
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome		37
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1		43
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome		43
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1		54
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome		54
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0001193	HP:0001193	Ulnar deviation of the hand or of fingers of the hand	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0001193	HP:0009465	Ulnar deviation of finger	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001193	HP:0009465	Ulnar deviation of finger	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	38
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0001193	HP:0009465	Ulnar deviation of finger	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0001193	HP:0009465	Ulnar deviation of finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0001193	HP:0009465	Ulnar deviation of finger	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	90
HP:0001193	HP:0009465	Ulnar deviation of finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0001193	HP:0009465	Ulnar deviation of finger	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0001193	HP:0009465	Ulnar deviation of finger	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0001193	HP:0009465	Ulnar deviation of finger	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001193	HP:0009465	Ulnar deviation of finger	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0001193	HP:0009465	Ulnar deviation of finger	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001193	HP:0009465	Ulnar deviation of finger	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	3
HP:0001193	HP:0009465	Ulnar deviation of finger	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0001193	HP:0009465	Ulnar deviation of finger	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	52
HP:0001193	HP:0009465	Ulnar deviation of finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0001193	HP:0009465	Ulnar deviation of finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0001193	HP:0009465	Ulnar deviation of finger	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0001193	HP:0009465	Ulnar deviation of finger	1	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040281 - Very frequent	25
HP:0001193	HP:0009465	Ulnar deviation of finger	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0001193	HP:0009465	Ulnar deviation of finger	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0001193	HP:0009465	Ulnar deviation of finger	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001193	HP:0009465	Ulnar deviation of finger	1	MYBPC1 CL E G H	4604	7549	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	66
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	MYH3 CL E G H	4621	7573	OMIM:618436	Arthrogryposis, distal, type 2B3		166
HP:0001193	HP:0009465	Ulnar deviation of finger	1	MYH3 CL E G H	4621	7573	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	166
HP:0001193	HP:0009465	Ulnar deviation of finger	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0001193	HP:0009465	Ulnar deviation of finger	1	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	166
HP:0001193	HP:0009465	Ulnar deviation of finger	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0001193	HP:0009465	Ulnar deviation of finger	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0001193	HP:0009465	Ulnar deviation of finger	1	NALCN CL E G H	259232	19082	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	48
HP:0001193	HP:0009465	Ulnar deviation of finger	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0001193	HP:0009465	Ulnar deviation of finger	1	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	48
HP:0001193	HP:0009465	Ulnar deviation of finger	1	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001193	HP:0009465	Ulnar deviation of finger	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0001193	HP:0009465	Ulnar deviation of finger	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0001193	HP:0009465	Ulnar deviation of finger	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001193	HP:0009465	Ulnar deviation of finger	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0001193	HP:0009465	Ulnar deviation of finger	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0001193	HP:0009465	Ulnar deviation of finger	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0001193	HP:0009465	Ulnar deviation of finger	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent	28
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TNNI2 CL E G H	7136	11946	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	37
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	37
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TNNT3 CL E G H	7140	11950	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	43
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	43
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TPM2 CL E G H	7169	12011	ORPHA:1146	Distal arthrogryposis type 1	HP:0040282 - Frequent	54
HP:0001193	HP:0009465	Ulnar deviation of finger	1	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome	HP:0040282 - Frequent	54
HP:0001193	HP:0009465	Ulnar deviation of finger	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001193	HP:0009487	Ulnar deviation of the hand	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0001193	HP:0009180	Ulnar deviation of the 5th finger	2	CL E G H
HP:0001193	HP:0006156	Ulnar deviation of thumb	2	CL E G H
HP:0001193	HP:0009278	Ulnar deviation of the 4th finger	2	CL E G H
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0001193	HP:0006055	Ulnar deviated club hands	2	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0001193	HP:0006055	Ulnar deviated club hands	2	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0001193	HP:0006055	Ulnar deviated club hands	2	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0001193	HP:0009463	Ulnar deviation of the 3rd finger	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0001193	HP:0006055	Ulnar deviated club hands	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0001193	HP:0009463	Ulnar deviation of the 3rd finger	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0001193	HP:0009464	Ulnar deviation of the 2nd finger	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6

Genes (60) :ADGRG6 ALG9 ANKRD11 ASXL3 B3GALT6 B9D2 BCR BMP2 BMPR1B CD96 CHRNG CILK1 COL9A1 COL9A2 COL9A3 COMP CRKL DACT1 DHCR7 DPYSL5 EXOC6B FBN2 FLNA GDF5 HOXA13 HOXD13 HRAS LAMA5 LBR LIFR MAFB MAN2C1 MAP3K7 MAPK1 MED12 MUSK MYBPC1 MYH3 MYMK MYMX NALCN PAX3 PCDHGC4 PEX1 PIEZO2 PTRH2 RAB3GAP1 RAB3GAP2 RBM28 RBM8A SALL1 SHOX SLC26A2 TBX22 TGDS TNNI2 TNNT3 TPM2 WNT7A ZEB2

Diseases (60) :OMIM:616503 ORPHA:79328 OMIM:263210 OMIM:148050 OMIM:615485 ORPHA:93359 OMIM:614175 ORPHA:261330 OMIM:112600 ORPHA:93384 OMIM:211750 OMIM:265000 OMIM:612651 ORPHA:166002 OMIM:177170 ORPHA:857 ORPHA:818 OMIM:619435 OMIM:121050 ORPHA:1826 OMIM:113100 OMIM:140000 ORPHA:93406 ORPHA:3071 OMIM:620076 OMIM:215140 OMIM:601559 OMIM:166300 OMIM:619775 OMIM:617137 OMIM:300895 OMIM:208150 ORPHA:1146 OMIM:193700 OMIM:618436 ORPHA:2053 ORPHA:1147 ORPHA:1358 ORPHA:1529 OMIM:122880 OMIM:619880 OMIM:214100 OMIM:114300 ORPHA:456312 ORPHA:1387 OMIM:612079 ORPHA:157954 OMIM:274000 ORPHA:2632 ORPHA:56304 ORPHA:628 OMIM:222600 ORPHA:93307 ORPHA:921 OMIM:616145 OMIM:601680 OMIM:108120 OMIM:228930 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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