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:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Abnormality of the palpebral fissures (HP:0008050)

..Starting node
..Abnormal shape of the palpebral fissure (HP:0200005)

Term ID:

200005

Name:

Abnormal shape of the palpebral fissure

Synonym:

Abnormal morphology of the palpebral fissure; Abnormal shape of the opening between the eyelids

Definition:

The presence of an abnormal shape of the palpebral fissure.

Comments:

Reference:

HP:0200005

Genes and Diseases:

Child Nodes:

........

S-shaped palpebral fissures (HP:0007835)

........

Almond-shaped palpebral fissure (HP:0007874)

Sister Nodes:

Abnormal size of the palpebral fissures (HP:0200007)

Slanting of the palpebral fissure (HP:0200006)

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:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome		2
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome		34
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome		34
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome		40
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0200005	HP:0200005	Abnormal shape of the palpebral fissure	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	5769
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	7642
HP:0200005	HP:0007835	S-shaped palpebral fissures	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	1086
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	CHD1 CL E G H	1105	1915	ORPHA:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	HP:0040282 - Frequent	2
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	158
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	340
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	58
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	410
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	147
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	73
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	87
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	73
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	157
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	53
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	107
HP:0200005	HP:0007835	S-shaped palpebral fissures	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	1
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	1349
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	9
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	391
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	274
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	2
HP:0200005	HP:0007874	Almond-shaped palpebral fissure	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent	125

Genes (60) :ANKRD17 BRCA1 BRCA2 BRF1 BRIP1 CHD1 CLCN3 EHMT1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FOXL2 GON7 HERC2 HNRNPH2 IFT74 IPW KAT5 KATNB1 KIF15 KMT2C LMX1B MAD2L2 MAGEL2 MAPK1 MKRN3 MKRN3-AS1 NDN NPAP1 NSD2 NSDHL OCA2 PALB2 PHIP PMM2 PUF60 PWAR1 PWRN1 RAD51 RAD51C RFWD3 RNF2 SIM1 SLX4 SNORD115-1 SNORD116-1 SNRPN STXBP1 SYT1 UBE2A UBE2T XRCC2

Diseases (32) :OMIM:619504 ORPHA:84 ORPHA:444072 ORPHA:529965 OMIM:619512 ORPHA:261652 ORPHA:572333 OMIM:619603 OMIM:176270 OMIM:300986 OMIM:619582 OMIM:619103 OMIM:616212 ORPHA:261323 ORPHA:495818 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:619087 OMIM:619695 OMIM:300831 ORPHA:251383 ORPHA:589905 OMIM:212065 ORPHA:508498 OMIM:619460 ORPHA:171829 ORPHA:398079 ORPHA:177907 ORPHA:522077 OMIM:300860

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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