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 palpebral fissures (HP:0008050)

Parent Node:
Slanting of the palpebral fissure (HP:0200006)

..Starting node
..Upslanted palpebral fissure (HP:0000582)

Term ID:

582

Name:

Upslanted palpebral fissure

Synonym:

Mongoloid slant; Upslanted palpebral fissures; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures

Definition:

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.

Comments:

Reference:

HP:0000582

Genes and Diseases:

Child Nodes:

Sister Nodes:

Downslanted palpebral fissures (HP:0000494)

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:0000582	HP:0000582	Upslanted palpebral fissure	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent	9
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	3
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2	.	83
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional	219
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	512
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	181
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	161
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	38
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	146
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	31
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	15
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent	144
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040283 - Occasional	175
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare	580
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent	39
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional	46
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	9
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	112
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	.	4
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	155
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040282 - Frequent	132
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	5
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.	98
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	16
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent	36
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2	.	84
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040281 - Very frequent	150
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent	28
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent	28
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	11
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome	.	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	4
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	99
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent	13
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0000582	HP:0000582	Upslanted palpebral fissure	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:0000582	HP:0000582	Upslanted palpebral fissure	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	224
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000582	HP:0000582	Upslanted palpebral fissure	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24

Genes (301) :ADAMTS3 ADAMTSL2 ADARB1 ADAT3 AGO2 AHDC1 ALG2 ALX4 ANK1 ANKLE2 ANKRD11 ANKRD17 AP1S1 AP3B1 ARID1B ARVCF ASPM ASXL1 ASXL3 ATAD3A ATRX AUTS2 B3GLCT BCL11B BICRA BLTP1 BPTF BRCA1 BRCA2 BRIP1 BUB1B C2CD3 CACNA1G CCDC22 CCDC32 CD96 CDC42 CDC42BPB CDK13 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CERT1 CHAMP1 CHD4 CHD5 CIT CLTC CNOT2 CNOT3 COG1 COG7 COL3A1 COMT COPB1 COPB2 CREBBP CTU2 DDB1 DEAF1 DHCR7 DLG3 DLX4 DONSON DPH5 DPYD DVL1 DVL3 DYNC1I2 DYRK1A EBF3 EBP EFTUD2 EHMT1 EIF2AK3 EP300 ERCC4 EXOC2 EXOSC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO31 FGFR1 FGFR2 FIG4 FLII FZD2 GAD1 GATA1 GATA4 GATAD2B GJA1 GJA5 GJA8 GNB2 GP1BB H3-3A H4C11 H4C3 H4C5 HBB HDAC4 HERC1 HERC2 HHAT HIRA HIVEP2 HNRNPR HNRNPU HS2ST1 HSD17B4 HUWE1 IFT140 IFT57 IGF1R IL1RAPL1 IPW IQSEC2 JAG1 JMJD1C KANSL1 KAT8 KDM4B KDM5C KIF11 KIF14 KNL1 LIG4 LMBRD2 LMNB1 MAD2L2 MAF MAGEL2 MAP3K7 MAPK8IP3 MAPRE2 MCM7 MCPH1 MCTP2 MECP2 MED13L MEF2C MEGF8 MEIS2 METTL5 MFSD2A MINPP1 MKRN3 MKRN3-AS1 MRPS2 MTSS2 MYCN NARS1 NBN NCAPD3 NDUFS4 NFIX NOG NONO NPAP1 NR2F1 NRCAM NSD2 NSDHL NXN OCRL PAK3 PALB2 PARS2 PCDHGC4 PCNT PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHC1 PHF8 PHIP PIGA PIGB PIGL PIGN PIGO PIGT PIGV PIGW PIGY PLPBP PMM2 POGZ POLA1 POLR3A POLR3GL PPP1CB PPP1R12A PPP1R21 PQBP1 PRDM13 PRKAR1B PTCH1 PUF60 PURA PWAR1 PWRN1 PYCR2 QRICH1 RAB11B RAD21 RAD51 RAD51C RAI1 RDH11 RERE RFWD3 RIPK4 ROR2 RREB1 RTTN SASS6 SCNM1 SEC24C SEPTIN9 SETD5 SIM1 SLC30A9 SLX4 SMC1A SMS SNORD115-1 SNORD116-1 SNRPN SPECC1L SPEN SPTBN1 STEEP1 STIL TAF13 TBCD TBCK TBX1 TBX6 TCF4 TELO2 TFAP2A THOC6 TLK2 TMCO1 TOE1 TOR1A TRAPPC10 TRAPPC14 TRIO TRIP12 TRRAP TTC26 TUBB TUBGCP2 UBE2A UBE2T UBE3B UFD1 UQCC2 USP9X VAC14 WASF1 WDR35 WDR62 WNT5A XRCC2 XRCC4 ZC4H2 ZIC2 ZMIZ1 ZMYND11 ZNF148 ZNF292 ZNF526

Diseases (260) :OMIM:618154 OMIM:231050 OMIM:618862 ORPHA:363528 OMIM:615286 OMIM:619149 ORPHA:412069 OMIM:615829 OMIM:607906 OMIM:613451 ORPHA:228390 ORPHA:251066 ORPHA:2512 ORPHA:261250 OMIM:619504 OMIM:609313 OMIM:608233 ORPHA:251056 ORPHA:567 OMIM:605039 ORPHA:352577 OMIM:615485 OMIM:617183 ORPHA:496790 OMIM:309580 ORPHA:352490 OMIM:615834 ORPHA:709 OMIM:261540 OMIM:617237 OMIM:619325 OMIM:617822 OMIM:617755 ORPHA:84 OMIM:617883 OMIM:257300 ORPHA:434179 OMIM:615948 OMIM:618087 OMIM:300963 OMIM:619123 OMIM:211750 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:617360 OMIM:616351 OMIM:616579 OMIM:617159 OMIM:619873 OMIM:617854 OMIM:618608 OMIM:618672 OMIM:611209 OMIM:608779 OMIM:618343 OMIM:619255 OMIM:618332 OMIM:618142 OMIM:619426 ORPHA:819 ORPHA:818 OMIM:300850 OMIM:616788 OMIM:617604 OMIM:620070 ORPHA:293948 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:618492 ORPHA:268261 OMIM:617330 ORPHA:401973 OMIM:610536 ORPHA:79113 OMIM:610253 OMIM:226980 OMIM:618333 OMIM:619306 OMIM:617763 OMIM:614083 OMIM:615979 OMIM:190440 ORPHA:168624 OMIM:216340 ORPHA:3472 OMIM:619124 OMIM:190685 ORPHA:251071 ORPHA:363686 ORPHA:2710 OMIM:612474 OMIM:619503 OMIM:619720 OMIM:619759 OMIM:619758 OMIM:619950 ORPHA:231214 ORPHA:231226 ORPHA:1001 OMIM:617011 ORPHA:457359 OMIM:176270 OMIM:600092 OMIM:616977 OMIM:620073 ORPHA:238769 OMIM:619194 OMIM:261515 OMIM:309590 OMIM:266920 OMIM:617927 OMIM:270450 OMIM:300143 OMIM:118450 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:618974 OMIM:619320 OMIM:300534 OMIM:152950 ORPHA:2526 ORPHA:99812 OMIM:619694 OMIM:619179 ORPHA:1272 OMIM:601088 OMIM:157800 OMIM:618443 OMIM:616734 ORPHA:1596 OMIM:300260 ORPHA:369891 OMIM:616789 ORPHA:228384 OMIM:613443 OMIM:614976 OMIM:600987 ORPHA:284339 OMIM:617950 OMIM:620086 OMIM:164280 OMIM:619092 ORPHA:647 OMIM:251260 OMIM:252010 ORPHA:447980 OMIM:186500 ORPHA:466791 OMIM:300967 OMIM:615722 ORPHA:401777 OMIM:619833 OMIM:619695 OMIM:300831 ORPHA:251383 ORPHA:1507 ORPHA:534 OMIM:300558 OMIM:618437 OMIM:619880 OMIM:210720 OMIM:214100 ORPHA:912 OMIM:214110 OMIM:614862 OMIM:215100 OMIM:615802 ORPHA:247262 OMIM:615716 OMIM:300263 OMIM:617991 ORPHA:589905 OMIM:300868 OMIM:618580 ORPHA:3474 ORPHA:280633 OMIM:614749 ORPHA:369837 OMIM:239300 OMIM:617290 ORPHA:79318 OMIM:616364 OMIM:301030 OMIM:264090 ORPHA:3455 OMIM:619234 OMIM:617506 OMIM:618820 OMIM:619383 OMIM:309500 ORPHA:93947 ORPHA:93950 OMIM:619909 OMIM:619680 OMIM:610828 ORPHA:508488 ORPHA:438216 OMIM:616420 ORPHA:481152 OMIM:617982 OMIM:617807 OMIM:614701 OMIM:616108 ORPHA:436245 OMIM:616975 OMIM:263650 ORPHA:468631 OMIM:620107 OMIM:162100 ORPHA:404440 OMIM:615761 ORPHA:171829 OMIM:617595 OMIM:301044 ORPHA:3063 ORPHA:177907 OMIM:145420 OMIM:619312 OMIM:619475 OMIM:301013 ORPHA:496641 OMIM:617193 ORPHA:488632 ORPHA:1797 OMIM:610954 ORPHA:2896 ORPHA:488642 ORPHA:1297 OMIM:113620 OMIM:613680 OMIM:618050 OMIM:213980 OMIM:618947 OMIM:620027 OMIM:617061 OMIM:617752 OMIM:618454 OMIM:619534 OMIM:156610 OMIM:618737 OMIM:300860 ORPHA:163956 OMIM:244450 ORPHA:2707 OMIM:615824 ORPHA:480880 OMIM:618707 OMIM:613610 OMIM:314580 OMIM:609637 OMIM:618659 OMIM:616083 OMIM:617260 OMIM:619188 OMIM:619877

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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