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:
Abnormality of the orbital region (HP:0000315)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormality of globe location (HP:0100886)

..Starting node
..Hypotelorism (HP:0000601)

Term ID:

601

Name:

Hypotelorism

Synonym:

Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism

Definition:

Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

Comments:

Reference:

HP:0000601

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cyclopia (HP:0009914)

Deeply set eye (HP:0000490)

Hypertelorism (HP:0000316)

Proptosis (HP:0000520)

Vertical orbital dystopia (HP:0030867)

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:0000601	HP:0000601	Hypotelorism	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000601	HP:0000601	Hypotelorism	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0000601	HP:0000601	Hypotelorism	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0000601	HP:0000601	Hypotelorism	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000601	HP:0000601	Hypotelorism	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0000601	HP:0000601	Hypotelorism	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000601	HP:0000601	Hypotelorism	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0000601	HP:0000601	Hypotelorism	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000601	HP:0000601	Hypotelorism	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0000601	HP:0000601	Hypotelorism	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000601	HP:0000601	Hypotelorism	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000601	HP:0000601	Hypotelorism	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0000601	HP:0000601	Hypotelorism	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000601	HP:0000601	Hypotelorism	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000601	HP:0000601	Hypotelorism	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000601	HP:0000601	Hypotelorism	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0000601	HP:0000601	Hypotelorism	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11		200
HP:0000601	HP:0000601	Hypotelorism	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0000601	HP:0000601	Hypotelorism	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	200
HP:0000601	HP:0000601	Hypotelorism	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	200
HP:0000601	HP:0000601	Hypotelorism	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	200
HP:0000601	HP:0000601	Hypotelorism	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000601	HP:0000601	Hypotelorism	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000601	HP:0000601	Hypotelorism	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000601	HP:0000601	Hypotelorism	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000601	HP:0000601	Hypotelorism	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0000601	HP:0000601	Hypotelorism	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000601	HP:0000601	Hypotelorism	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0000601	HP:0000601	Hypotelorism	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000601	HP:0000601	Hypotelorism	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0000601	HP:0000601	Hypotelorism	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0000601	HP:0000601	Hypotelorism	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	22
HP:0000601	HP:0000601	Hypotelorism	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	22
HP:0000601	HP:0000601	Hypotelorism	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	22
HP:0000601	HP:0000601	Hypotelorism	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0000601	HP:0000601	Hypotelorism	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0000601	HP:0000601	Hypotelorism	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	3
HP:0000601	HP:0000601	Hypotelorism	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	3
HP:0000601	HP:0000601	Hypotelorism	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	3
HP:0000601	HP:0000601	Hypotelorism	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0000601	HP:0000601	Hypotelorism	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0000601	HP:0000601	Hypotelorism	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000601	HP:0000601	Hypotelorism	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000601	HP:0000601	Hypotelorism	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000601	HP:0000601	Hypotelorism	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional	40
HP:0000601	HP:0000601	Hypotelorism	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000601	HP:0000601	Hypotelorism	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000601	HP:0000601	Hypotelorism	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000601	HP:0000601	Hypotelorism	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0000601	HP:0000601	Hypotelorism	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0000601	HP:0000601	Hypotelorism	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000601	HP:0000601	Hypotelorism	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000601	HP:0000601	Hypotelorism	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	17
HP:0000601	HP:0000601	Hypotelorism	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	17
HP:0000601	HP:0000601	Hypotelorism	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	17
HP:0000601	HP:0000601	Hypotelorism	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	17
HP:0000601	HP:0000601	Hypotelorism	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	17
HP:0000601	HP:0000601	Hypotelorism	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0000601	HP:0000601	Hypotelorism	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	172
HP:0000601	HP:0000601	Hypotelorism	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	172
HP:0000601	HP:0000601	Hypotelorism	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	172
HP:0000601	HP:0000601	Hypotelorism	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	172
HP:0000601	HP:0000601	Hypotelorism	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0000601	HP:0000601	Hypotelorism	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0000601	HP:0000601	Hypotelorism	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0000601	HP:0000601	Hypotelorism	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0000601	HP:0000601	Hypotelorism	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	48
HP:0000601	HP:0000601	Hypotelorism	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	48
HP:0000601	HP:0000601	Hypotelorism	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	48
HP:0000601	HP:0000601	Hypotelorism	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	48
HP:0000601	HP:0000601	Hypotelorism	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	48
HP:0000601	HP:0000601	Hypotelorism	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	198
HP:0000601	HP:0000601	Hypotelorism	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	2
HP:0000601	HP:0000601	Hypotelorism	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	2
HP:0000601	HP:0000601	Hypotelorism	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	2
HP:0000601	HP:0000601	Hypotelorism	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	2
HP:0000601	HP:0000601	Hypotelorism	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	2
HP:0000601	HP:0000601	Hypotelorism	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	HP:0040283 - Occasional	137
HP:0000601	HP:0000601	Hypotelorism	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0000601	HP:0000601	Hypotelorism	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000601	HP:0000601	Hypotelorism	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000601	HP:0000601	Hypotelorism	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	173
HP:0000601	HP:0000601	Hypotelorism	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	HP:0040283 - Occasional	173
HP:0000601	HP:0000601	Hypotelorism	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000601	HP:0000601	Hypotelorism	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	173
HP:0000601	HP:0000601	Hypotelorism	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	173
HP:0000601	HP:0000601	Hypotelorism	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	173
HP:0000601	HP:0000601	Hypotelorism	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	173
HP:0000601	HP:0000601	Hypotelorism	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000601	HP:0000601	Hypotelorism	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000601	HP:0000601	Hypotelorism	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0000601	HP:0000601	Hypotelorism	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0000601	HP:0000601	Hypotelorism	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000601	HP:0000601	Hypotelorism	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000601	HP:0000601	Hypotelorism	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000601	HP:0000601	Hypotelorism	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000601	HP:0000601	Hypotelorism	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000601	HP:0000601	Hypotelorism	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000601	HP:0000601	Hypotelorism	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0000601	HP:0000601	Hypotelorism	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000601	HP:0000601	Hypotelorism	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0000601	HP:0000601	Hypotelorism	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0000601	HP:0000601	Hypotelorism	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000601	HP:0000601	Hypotelorism	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000601	HP:0000601	Hypotelorism	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0000601	HP:0000601	Hypotelorism	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0000601	HP:0000601	Hypotelorism	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0000601	HP:0000601	Hypotelorism	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000601	HP:0000601	Hypotelorism	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000601	HP:0000601	Hypotelorism	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000601	HP:0000601	Hypotelorism	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0000601	HP:0000601	Hypotelorism	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional	45
HP:0000601	HP:0000601	Hypotelorism	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0000601	HP:0000601	Hypotelorism	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0000601	HP:0000601	Hypotelorism	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0000601	HP:0000601	Hypotelorism	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0000601	HP:0000601	Hypotelorism	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0000601	HP:0000601	Hypotelorism	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0000601	HP:0000601	Hypotelorism	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	45
HP:0000601	HP:0000601	Hypotelorism	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	45
HP:0000601	HP:0000601	Hypotelorism	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	45
HP:0000601	HP:0000601	Hypotelorism	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	45
HP:0000601	HP:0000601	Hypotelorism	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	45
HP:0000601	HP:0000601	Hypotelorism	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0000601	HP:0000601	Hypotelorism	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000601	HP:0000601	Hypotelorism	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0000601	HP:0000601	Hypotelorism	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0000601	HP:0000601	Hypotelorism	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0000601	HP:0000601	Hypotelorism	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0000601	HP:0000601	Hypotelorism	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0000601	HP:0000601	Hypotelorism	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000601	HP:0000601	Hypotelorism	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent
HP:0000601	HP:0000601	Hypotelorism	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000601	HP:0000601	Hypotelorism	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0000601	HP:0000601	Hypotelorism	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0000601	HP:0000601	Hypotelorism	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000601	HP:0000601	Hypotelorism	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000601	HP:0000601	Hypotelorism	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0000601	HP:0000601	Hypotelorism	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000601	HP:0000601	Hypotelorism	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	665
HP:0000601	HP:0000601	Hypotelorism	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000601	HP:0000601	Hypotelorism	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	665
HP:0000601	HP:0000601	Hypotelorism	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	665
HP:0000601	HP:0000601	Hypotelorism	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	665
HP:0000601	HP:0000601	Hypotelorism	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	665
HP:0000601	HP:0000601	Hypotelorism	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	HP:0040283 - Occasional	53
HP:0000601	HP:0000601	Hypotelorism	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000601	HP:0000601	Hypotelorism	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	90
HP:0000601	HP:0000601	Hypotelorism	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040282 - Frequent	135
HP:0000601	HP:0000601	Hypotelorism	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000601	HP:0000601	Hypotelorism	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0000601	HP:0000601	Hypotelorism	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000601	HP:0000601	Hypotelorism	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000601	HP:0000601	Hypotelorism	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000601	HP:0000601	Hypotelorism	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000601	HP:0000601	Hypotelorism	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000601	HP:0000601	Hypotelorism	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	67
HP:0000601	HP:0000601	Hypotelorism	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0000601	HP:0000601	Hypotelorism	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	67
HP:0000601	HP:0000601	Hypotelorism	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	67
HP:0000601	HP:0000601	Hypotelorism	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	67
HP:0000601	HP:0000601	Hypotelorism	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	67
HP:0000601	HP:0000601	Hypotelorism	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0000601	HP:0000601	Hypotelorism	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0000601	HP:0000601	Hypotelorism	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000601	HP:0000601	Hypotelorism	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0000601	HP:0000601	Hypotelorism	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000601	HP:0000601	Hypotelorism	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	135
HP:0000601	HP:0000601	Hypotelorism	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000601	HP:0000601	Hypotelorism	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000601	HP:0000601	Hypotelorism	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0000601	HP:0000601	Hypotelorism	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0000601	HP:0000601	Hypotelorism	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0000601	HP:0000601	Hypotelorism	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	99
HP:0000601	HP:0000601	Hypotelorism	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	99
HP:0000601	HP:0000601	Hypotelorism	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	99
HP:0000601	HP:0000601	Hypotelorism	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	99
HP:0000601	HP:0000601	Hypotelorism	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0000601	HP:0000601	Hypotelorism	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	124
HP:0000601	HP:0000601	Hypotelorism	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000601	HP:0000601	Hypotelorism	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0000601	HP:0000601	Hypotelorism	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0000601	HP:0000601	Hypotelorism	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	1
HP:0000601	HP:0000601	Hypotelorism	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	1
HP:0000601	HP:0000601	Hypotelorism	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	1
HP:0000601	HP:0000601	Hypotelorism	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32
HP:0000601	HP:0000601	Hypotelorism	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	32
HP:0000601	HP:0000601	Hypotelorism	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0000601	HP:0000601	Hypotelorism	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0000601	HP:0000601	Hypotelorism	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional	158
HP:0000601	HP:0000601	Hypotelorism	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000601	HP:0000601	Hypotelorism	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000601	HP:0000601	Hypotelorism	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0000601	HP:0000601	Hypotelorism	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0000601	HP:0000601	Hypotelorism	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0000601	HP:0000601	Hypotelorism	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0000601	HP:0000601	Hypotelorism	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0000601	HP:0000601	Hypotelorism	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0000601	HP:0000601	Hypotelorism	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0000601	HP:0000601	Hypotelorism	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent	34
HP:0000601	HP:0000601	Hypotelorism	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000601	HP:0000601	Hypotelorism	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent	34
HP:0000601	HP:0000601	Hypotelorism	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	34
HP:0000601	HP:0000601	Hypotelorism	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent	34
HP:0000601	HP:0000601	Hypotelorism	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent	34
HP:0000601	HP:0000601	Hypotelorism	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (132) :AARS1 AASS ABCC9 ACBD5 ALDH18A1 AP3D1 ARCN1 ARID1B ATP6AP1 BICRA BLTP1 CAMK2A CARS1 CCDC32 CDK19 CDON CEP57 CILK1 CLCN3 CNOT1 CNOT3 COX14 DDB1 DISP1 DLL1 DPM2 DPYSL5 DYRK1A ELN EPG5 ERCC2 ERCC3 EVC EVC2 FANCD2 FARSB FGF8 FGFR1 FGFR2 FGFR3 FKBP14 FOXH1 FREM1 GAS1 GATA2 GJA1 GJA5 GJA8 GLI2 GNB2 GON7 GPT2 GSC GTF2E2 GTF2H5 HNRNPH2 HUWE1 IFT122 IFT43 IFT52 KANSL1 KAT8 KCTD1 LAGE3 LIG4 MKS1 MLXIPL MPLKIP MSTO1 MSX2 NARS1 NDE1 NDP NF1 NIN NODAL NSUN2 NTNG2 NUP107 NUP133 OPHN1 OSGEP PAH PDE4D PLCH1 POLR3A POLRMT PPP1R15B PRKAR1B PROKR2 PRPS1 PTCH1 PYCR1 QARS1 RAB3GAP1 RAB3GAP2 RAD21 RECQL4 RERE RLIM RNF113A RTTN SEPTIN9 SHH SHPK SIX3 SLC35A1 SMC1A SMPD4 SNRPN SRC STAG2 STIL STIM1 SUFU TARS1 TDGF1 TGIF1 TP53RK TPRKB TRAPPC9 TRMT10A TRRAP TWIST1 USP9X WDR19 WDR35 WDR4 WDR73 XRCC4 ZIC2 ZNF699

Diseases (112) :OMIM:619691 ORPHA:2203 OMIM:619719 OMIM:618863 OMIM:219150 OMIM:617050 OMIM:617164 OMIM:135900 OMIM:300972 OMIM:619325 OMIM:617822 OMIM:617798 ORPHA:33364 OMIM:619123 OMIM:618916 ORPHA:93925 OMIM:614226 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 OMIM:614114 OMIM:612651 OMIM:619512 OMIM:618500 ORPHA:556955 OMIM:618672 OMIM:619053 OMIM:619426 OMIM:615042 ORPHA:329178 OMIM:619435 OMIM:614104 OMIM:194050 ORPHA:1493 OMIM:242840 OMIM:193530 OMIM:227646 OMIM:613658 OMIM:615465 ORPHA:3366 OMIM:190440 ORPHA:794 OMIM:614557 OMIM:614038 ORPHA:2710 OMIM:612474 OMIM:615849 OMIM:610829 OMIM:619503 OMIM:619603 OMIM:616281 ORPHA:477673 OMIM:602471 OMIM:616395 OMIM:300986 OMIM:309590 ORPHA:1515 OMIM:218330 OMIM:610443 OMIM:618974 OMIM:181270 ORPHA:2065 OMIM:606593 OMIM:249000 ORPHA:502423 OMIM:604757 OMIM:619091 ORPHA:2177 ORPHA:649 ORPHA:363700 ORPHA:319675 OMIM:614851 OMIM:611091 OMIM:618718 OMIM:300486 ORPHA:2209 ORPHA:439822 OMIM:264090 OMIM:619743 OMIM:616817 ORPHA:391408 OMIM:619680 OMIM:244200 OMIM:300661 OMIM:610828 OMIM:612940 OMIM:615760 ORPHA:1387 OMIM:614701 ORPHA:1225 OMIM:616975 OMIM:300978 ORPHA:468631 OMIM:162100 OMIM:142945 OMIM:147250 ORPHA:440713 OMIM:157170 OMIM:603585 OMIM:301044 OMIM:618622 ORPHA:177907 OMIM:616937 OMIM:185070 OMIM:142946 OMIM:613192 OMIM:618454 OMIM:300968 OMIM:616541 OMIM:609637 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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