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:
Localized skin lesion (HP:0011355)

Parent Node:
Sacrococcygeal pilonidal abnormality (HP:0010767)

Parent Node:
Skin dimple (HP:0010781)

..Starting node
..Sacral dimple (HP:0000960)

Term ID:

960

Name:

Sacral dimple

Synonym:

Pilonidal dimple; Spinal dimple

Definition:

A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.

Comments:

Reference:

HP:0000960

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hand dimple (HP:0040251)

Shoulder dimple (HP:0010782)

Skin dimple over apex of long bone angulation (HP:0001024)

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:0000960	HP:0000960	Sacral dimple	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000960	HP:0000960	Sacral dimple	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000960	HP:0000960	Sacral dimple	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0000960	HP:0000960	Sacral dimple	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000960	HP:0000960	Sacral dimple	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000960	HP:0000960	Sacral dimple	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000960	HP:0000960	Sacral dimple	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0000960	HP:0000960	Sacral dimple	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000960	HP:0000960	Sacral dimple	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0000960	HP:0000960	Sacral dimple	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000960	HP:0000960	Sacral dimple	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0000960	HP:0000960	Sacral dimple	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0000960	HP:0000960	Sacral dimple	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0000960	HP:0000960	Sacral dimple	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000960	HP:0000960	Sacral dimple	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000960	HP:0000960	Sacral dimple	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0000960	HP:0000960	Sacral dimple	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0000960	HP:0000960	Sacral dimple	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000960	HP:0000960	Sacral dimple	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000960	HP:0000960	Sacral dimple	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000960	HP:0000960	Sacral dimple	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000960	HP:0000960	Sacral dimple	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000960	HP:0000960	Sacral dimple	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	HP:0040283 - Occasional	33
HP:0000960	HP:0000960	Sacral dimple	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000960	HP:0000960	Sacral dimple	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0000960	HP:0000960	Sacral dimple	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000960	HP:0000960	Sacral dimple	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000960	HP:0000960	Sacral dimple	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000960	HP:0000960	Sacral dimple	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000960	HP:0000960	Sacral dimple	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000960	HP:0000960	Sacral dimple	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0000960	HP:0000960	Sacral dimple	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000960	HP:0000960	Sacral dimple	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000960	HP:0000960	Sacral dimple	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000960	HP:0000960	Sacral dimple	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0000960	HP:0000960	Sacral dimple	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000960	HP:0000960	Sacral dimple	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000960	HP:0000960	Sacral dimple	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000960	HP:0000960	Sacral dimple	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0000960	HP:0000960	Sacral dimple	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000960	HP:0000960	Sacral dimple	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000960	HP:0000960	Sacral dimple	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000960	HP:0000960	Sacral dimple	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000960	HP:0000960	Sacral dimple	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000960	HP:0000960	Sacral dimple	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000960	HP:0000960	Sacral dimple	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000960	HP:0000960	Sacral dimple	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0000960	HP:0000960	Sacral dimple	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000960	HP:0000960	Sacral dimple	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional	11
HP:0000960	HP:0000960	Sacral dimple	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000960	HP:0000960	Sacral dimple	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0000960	HP:0000960	Sacral dimple	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000960	HP:0000960	Sacral dimple	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0000960	HP:0000960	Sacral dimple	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000960	HP:0000960	Sacral dimple	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000960	HP:0000960	Sacral dimple	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0000960	HP:0000960	Sacral dimple	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0000960	HP:0000960	Sacral dimple	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000960	HP:0000960	Sacral dimple	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000960	HP:0000960	Sacral dimple	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040283 - Occasional	144
HP:0000960	HP:0000960	Sacral dimple	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0000960	HP:0000960	Sacral dimple	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000960	HP:0000960	Sacral dimple	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000960	HP:0000960	Sacral dimple	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0000960	HP:0000960	Sacral dimple	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000960	HP:0000960	Sacral dimple	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000960	HP:0000960	Sacral dimple	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000960	HP:0000960	Sacral dimple	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000960	HP:0000960	Sacral dimple	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0000960	HP:0000960	Sacral dimple	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000960	HP:0000960	Sacral dimple	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000960	HP:0000960	Sacral dimple	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000960	HP:0000960	Sacral dimple	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0000960	HP:0000960	Sacral dimple	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0000960	HP:0000960	Sacral dimple	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0000960	HP:0000960	Sacral dimple	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0000960	HP:0000960	Sacral dimple	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0000960	HP:0000960	Sacral dimple	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0000960	HP:0000960	Sacral dimple	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0000960	HP:0000960	Sacral dimple	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	231
HP:0000960	HP:0000960	Sacral dimple	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0000960	HP:0000960	Sacral dimple	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0000960	HP:0000960	Sacral dimple	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000960	HP:0000960	Sacral dimple	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000960	HP:0000960	Sacral dimple	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000960	HP:0000960	Sacral dimple	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0000960	HP:0000960	Sacral dimple	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0000960	HP:0000960	Sacral dimple	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000960	HP:0000960	Sacral dimple	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000960	HP:0000960	Sacral dimple	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000960	HP:0000960	Sacral dimple	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000960	HP:0000960	Sacral dimple	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000960	HP:0000960	Sacral dimple	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0000960	HP:0000960	Sacral dimple	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000960	HP:0000960	Sacral dimple	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0000960	HP:0000960	Sacral dimple	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000960	HP:0000960	Sacral dimple	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0000960	HP:0000960	Sacral dimple	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0000960	HP:0000960	Sacral dimple	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0000960	HP:0000960	Sacral dimple	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000960	HP:0000960	Sacral dimple	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000960	HP:0000960	Sacral dimple	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0000960	HP:0000960	Sacral dimple	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0000960	HP:0000960	Sacral dimple	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0000960	HP:0000960	Sacral dimple	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000960	HP:0000960	Sacral dimple	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000960	HP:0000960	Sacral dimple	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000960	HP:0000960	Sacral dimple	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000960	HP:0000960	Sacral dimple	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	14
HP:0000960	HP:0000960	Sacral dimple	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0000960	HP:0000960	Sacral dimple	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (106) :AEBP1 AFF3 ANK1 ARID1B ASXL1 B3GLCT B9D2 BAP1 BAZ1B BCL7B BUD23 CAMK2G CAPN15 CCL2 CD96 CDK10 CLIP2 COLEC10 COX7B CPLX1 CTBP1 CTCF DCHS1 DEAF1 DHCR7 DHPS DNAJC30 DVL1 DVL3 DYRK1A EBP EIF4H ELN EXTL3 FANCB FANCF FAT4 FGFRL1 FKBP6 FUZ FZD2 GNB2 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCCS HIC1 HNRNPK HOXA13 KANSL1 KCNK9 KIF15 KMT2A LETM1 LIFR LIG4 LIMK1 MAN2C1 MASP1 MED12 METTL27 MLXIPL NADSYN1 NCAPG2 NCF1 NDUFB11 NELFA NSD2 NSUN2 NXN ODC1 OTUD6B PAFAH1B1 PIGG POLA1 PRR12 PSMD12 RAB23 RFC2 RMRP ROR2 RPL10 SCARF2 SETD5 SHANK3 SMG9 SPOP STX1A SUGCT TAF1 TBL2 TBX4 TBXT TCF4 TMCO1 TMEM270 USP9X VANGL1 VANGL2 VPS37D WLS WNT5A YWHAE ZIC3 ZNF699

Diseases (81) :ORPHA:536532 OMIM:619297 ORPHA:251066 OMIM:135900 OMIM:605039 ORPHA:709 OMIM:614175 OMIM:619762 ORPHA:904 OMIM:618522 OMIM:619318 OMIM:182940 ORPHA:1308 OMIM:617694 OMIM:248340 ORPHA:2556 ORPHA:280 OMIM:194190 ORPHA:363611 OMIM:615502 OMIM:601390 OMIM:615828 OMIM:270400 OMIM:618480 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:268261 ORPHA:401973 ORPHA:508533 OMIM:314390 OMIM:603467 OMIM:615546 OMIM:619503 OMIM:619950 ORPHA:531 OMIM:616580 ORPHA:2438 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:612292 ORPHA:166108 ORPHA:261323 OMIM:605130 ORPHA:319182 ORPHA:3206 ORPHA:235 OMIM:619775 OMIM:257920 ORPHA:93932 OMIM:305450 OMIM:618845 OMIM:618460 OMIM:619695 ORPHA:1507 ORPHA:544488 ORPHA:505237 OMIM:617452 OMIM:301030 OMIM:619539 OMIM:617516 OMIM:201000 ORPHA:175 ORPHA:459070 OMIM:600920 OMIM:615761 ORPHA:48652 OMIM:606232 OMIM:619995 OMIM:618828 ORPHA:35706 OMIM:300966 ORPHA:261279 OMIM:610954 OMIM:213980 OMIM:300968 ORPHA:480880 OMIM:619648 OMIM:619488

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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