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)

Grandparent Node:
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)

Parent Node:
Abnormal palm morphology (HP:0100871)

Parent Node:
Aplasia/hypoplasia involving bones of the hand (HP:0005927)

..Starting node
..Short palm (HP:0004279)

Term ID:

4279

Name:

Short palm

Synonym:

Hypoplastic hands; Short hands; Short palm; Short palms

Definition:

Short palm.

Comments:

Reference:

HP:0004279

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent hand (HP:0004050)

Aplasia/Hypoplasia involving the carpal bones (HP:0006502)

Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

Aplasia/Hypoplasia of fingers (HP:0006265)

Small hand (HP:0200055)

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:0004279	HP:0004279	Short palm	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0004279	HP:0004279	Short palm	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0004279	HP:0004279	Short palm	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0004279	HP:0004279	Short palm	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0004279	HP:0004279	Short palm	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0004279	HP:0004279	Short palm	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0004279	HP:0004279	Short palm	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0004279	HP:0004279	Short palm	0	BHLHA9 CL E G H	727857	35126	ORPHA:157801	Mesoaxial synostotic syndactyly with phalangeal reduction	HP:0040281 - Very frequent	4
HP:0004279	HP:0004279	Short palm	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0004279	HP:0004279	Short palm	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0004279	HP:0004279	Short palm	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0004279	HP:0004279	Short palm	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0004279	HP:0004279	Short palm	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0004279	HP:0004279	Short palm	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0004279	HP:0004279	Short palm	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0004279	HP:0004279	Short palm	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040281 - Very frequent	284
HP:0004279	HP:0004279	Short palm	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.	110
HP:0004279	HP:0004279	Short palm	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0004279	HP:0004279	Short palm	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0004279	HP:0004279	Short palm	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0004279	HP:0004279	Short palm	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0004279	HP:0004279	Short palm	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0004279	HP:0004279	Short palm	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0004279	HP:0004279	Short palm	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0004279	HP:0004279	Short palm	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0004279	HP:0004279	Short palm	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	304
HP:0004279	HP:0004279	Short palm	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0004279	HP:0004279	Short palm	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0004279	HP:0004279	Short palm	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0004279	HP:0004279	Short palm	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0004279	HP:0004279	Short palm	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	1361
HP:0004279	HP:0004279	Short palm	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0004279	HP:0004279	Short palm	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0004279	HP:0004279	Short palm	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0004279	HP:0004279	Short palm	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0004279	HP:0004279	Short palm	0	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	75
HP:0004279	HP:0004279	Short palm	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0004279	HP:0004279	Short palm	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	172
HP:0004279	HP:0004279	Short palm	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040282 - Frequent	175
HP:0004279	HP:0004279	Short palm	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0004279	HP:0004279	Short palm	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040282 - Frequent	493
HP:0004279	HP:0004279	Short palm	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0004279	HP:0004279	Short palm	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040283 - Occasional
HP:0004279	HP:0004279	Short palm	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0004279	HP:0004279	Short palm	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0004279	HP:0004279	Short palm	0	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	52
HP:0004279	HP:0004279	Short palm	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0004279	HP:0004279	Short palm	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0004279	HP:0004279	Short palm	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0004279	HP:0004279	Short palm	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0004279	HP:0004279	Short palm	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0004279	HP:0004279	Short palm	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0004279	HP:0004279	Short palm	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0004279	HP:0004279	Short palm	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	65
HP:0004279	HP:0004279	Short palm	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0004279	HP:0004279	Short palm	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia	.	44
HP:0004279	HP:0004279	Short palm	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040281 - Very frequent	44
HP:0004279	HP:0004279	Short palm	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0004279	HP:0004279	Short palm	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0004279	HP:0004279	Short palm	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0004279	HP:0004279	Short palm	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0004279	HP:0004279	Short palm	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0004279	HP:0004279	Short palm	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0004279	HP:0004279	Short palm	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0004279	HP:0004279	Short palm	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0004279	HP:0004279	Short palm	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0004279	HP:0004279	Short palm	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0004279	HP:0004279	Short palm	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0004279	HP:0004279	Short palm	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	12
HP:0004279	HP:0004279	Short palm	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0004279	HP:0004279	Short palm	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent	11
HP:0004279	HP:0004279	Short palm	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0004279	HP:0004279	Short palm	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0004279	HP:0004279	Short palm	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0004279	HP:0004279	Short palm	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0004279	HP:0004279	Short palm	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0004279	HP:0004279	Short palm	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0004279	HP:0004279	Short palm	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0004279	HP:0004279	Short palm	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0004279	HP:0004279	Short palm	0	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome	HP:0040281 - Very frequent	22
HP:0004279	HP:0004279	Short palm	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0004279	HP:0004279	Short palm	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0004279	HP:0004279	Short palm	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent	36
HP:0004279	HP:0004279	Short palm	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0004279	HP:0004279	Short palm	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0004279	HP:0004279	Short palm	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0004279	HP:0004279	Short palm	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0004279	HP:0004279	Short palm	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0004279	HP:0004279	Short palm	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0004279	HP:0004279	Short palm	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0004279	HP:0004279	Short palm	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0004279	HP:0004279	Short palm	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0004279	HP:0004279	Short palm	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0004279	HP:0004279	Short palm	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0004279	HP:0004279	Short palm	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0004279	HP:0004279	Short palm	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0004279	HP:0004279	Short palm	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0004279	HP:0004279	Short palm	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0004279	HP:0004279	Short palm	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0004279	HP:0004279	Short palm	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0004279	HP:0004279	Short palm	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0004279	HP:0004279	Short palm	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0004279	HP:0004279	Short palm	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0004279	HP:0004279	Short palm	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0004279	HP:0004279	Short palm	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0004279	HP:0004279	Short palm	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0004279	HP:0004279	Short palm	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0004279	HP:0004279	Short palm	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0004279	HP:0004279	Short palm	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0004279	HP:0004279	Short palm	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0004279	HP:0004279	Short palm	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0004279	HP:0004279	Short palm	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0004279	HP:0004279	Short palm	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0004279	HP:0004279	Short palm	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0004279	HP:0004279	Short palm	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0004279	HP:0004279	Short palm	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0004279	HP:0004279	Short palm	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0004279	HP:0004279	Short palm	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0004279	HP:0004279	Short palm	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent	133
HP:0004279	HP:0004279	Short palm	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0004279	HP:0004279	Short palm	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0004279	HP:0004279	Short palm	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	136
HP:0004279	HP:0004279	Short palm	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0004279	HP:0004279	Short palm	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0004279	HP:0004279	Short palm	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0004279	HP:0004279	Short palm	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040282 - Frequent	5

Genes (111) :ADAMTSL2 ANKRD11 ANTXR2 ATP7A B3GLCT BCR BGN BHLHA9 CAMK2G CAMTA1 CCBE1 CHSY1 COG4 COL11A1 COL11A2 COL2A1 COL9A2 CRKL CRLF1 CUL4B DPM1 DVL1 DVL3 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EVC EVC2 FBN1 FGD1 FGF9 FGFR1 FGFR2 FGFR3 FLNA FZD2 GATA1 GDF5 GPC3 GPC4 GPX4 HDAC4 HDAC6 HERC2 HNRNPR IFT80 IGF1R IHH INPP5K INPPL1 IPW KAT6B KCNJ2 KDM4B KDM5C KLHL15 KRAS LMNA LTBP3 MAGEL2 MAP3K7 MAPK1 MAPRE2 MBD5 MKRN3 MKRN3-AS1 MRPS28 MSL3 NOG NPAP1 ORC1 PIGL PIK3R1 PPP2R3C PRKAR1A PTDSS1 PTH1R PUF60 PWAR1 PWRN1 RAB3GAP2 RAI1 RBPJ RECQL4 RMRP RNU4ATAC ROR2 RSPRY1 SCUBE3 SH3PXD2B SIL1 SIN3A SMAD4 SMARCA2 SNIP1 SNORD115-1 SNORD116-1 TBCE TBL1XR1 TCF4 TMEM53 TONSL TRIO TRIP11 TRPS1 WAC WDR35 WDR81 WNT5A YY1AP1

Diseases (100) :OMIM:231050 OMIM:148050 ORPHA:2176 ORPHA:198 OMIM:261540 ORPHA:261330 OMIM:300106 ORPHA:157801 OMIM:618522 OMIM:614756 OMIM:235510 ORPHA:363417 ORPHA:85172 OMIM:228520 OMIM:215150 ORPHA:85166 OMIM:600204 OMIM:272430 ORPHA:85293 OMIM:608799 ORPHA:3107 OMIM:180700 OMIM:614563 ORPHA:93271 OMIM:193530 ORPHA:969 OMIM:102370 OMIM:614185 OMIM:305400 ORPHA:915 ORPHA:3237 OMIM:166250 ORPHA:93258 ORPHA:53271 ORPHA:90650 ORPHA:90652 ORPHA:93328 OMIM:190685 OMIM:312870 ORPHA:93317 ORPHA:1001 ORPHA:163966 OMIM:176270 OMIM:620073 ORPHA:73273 OMIM:607778 ORPHA:63446 OMIM:112500 ORPHA:559 OMIM:258480 ORPHA:85201 OMIM:170390 OMIM:619320 ORPHA:85279 OMIM:300982 ORPHA:3339 ORPHA:79474 ORPHA:3238 OMIM:616734 ORPHA:228402 OMIM:156200 OMIM:618958 OMIM:301032 OMIM:224690 ORPHA:3474 ORPHA:3163 OMIM:618419 OMIM:101800 ORPHA:2658 ORPHA:79106 ORPHA:508498 OMIM:212720 OMIM:182290 OMIM:614814 OMIM:268400 OMIM:607095 ORPHA:175 OMIM:250250 ORPHA:2636 OMIM:268310 ORPHA:457395 OMIM:619184 OMIM:249420 OMIM:613406 ORPHA:2588 ORPHA:3051 OMIM:614501 OMIM:241410 OMIM:244460 OMIM:602342 OMIM:610954 OMIM:619727 ORPHA:93357 ORPHA:476126 ORPHA:93299 ORPHA:166272 OMIM:190351 ORPHA:466950 OMIM:610185 ORPHA:79094

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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