Human Phenotype Ontology

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:0000527	HP:0000527	Long eyelashes	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000527	HP:0000527	Long eyelashes	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0000527	HP:0000527	Long eyelashes	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0000527	HP:0000527	Long eyelashes	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent	6
HP:0000527	HP:0000527	Long eyelashes	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0000527	HP:0000527	Long eyelashes	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0000527	HP:0000527	Long eyelashes	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000527	HP:0000527	Long eyelashes	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000527	HP:0000527	Long eyelashes	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000527	HP:0000527	Long eyelashes	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000527	HP:0000527	Long eyelashes	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0000527	HP:0000527	Long eyelashes	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0000527	HP:0000527	Long eyelashes	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000527	HP:0000527	Long eyelashes	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0000527	HP:0000527	Long eyelashes	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000527	HP:0000527	Long eyelashes	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000527	HP:0000527	Long eyelashes	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000527	HP:0000527	Long eyelashes	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000527	HP:0000527	Long eyelashes	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000527	HP:0000527	Long eyelashes	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000527	HP:0000527	Long eyelashes	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0000527	HP:0000527	Long eyelashes	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0000527	HP:0000527	Long eyelashes	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:0000527	HP:0000527	Long eyelashes	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0000527	HP:0000527	Long eyelashes	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0000527	HP:0000527	Long eyelashes	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000527	HP:0000527	Long eyelashes	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000527	HP:0000527	Long eyelashes	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0000527	HP:0000527	Long eyelashes	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0000527	HP:0000527	Long eyelashes	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0000527	HP:0000527	Long eyelashes	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent	17
HP:0000527	HP:0000527	Long eyelashes	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000527	HP:0000527	Long eyelashes	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0000527	HP:0000527	Long eyelashes	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000527	HP:0000527	Long eyelashes	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0000527	HP:0000527	Long eyelashes	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000527	HP:0000527	Long eyelashes	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000527	HP:0000527	Long eyelashes	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000527	HP:0000527	Long eyelashes	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000527	HP:0000527	Long eyelashes	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0000527	HP:0000527	Long eyelashes	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000527	HP:0000527	Long eyelashes	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000527	HP:0000527	Long eyelashes	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0000527	HP:0000527	Long eyelashes	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	1361
HP:0000527	HP:0000527	Long eyelashes	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0000527	HP:0000527	Long eyelashes	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000527	HP:0000527	Long eyelashes	0	FGF5 CL E G H	2250	3683	OMIM:190330	Trichomegaly	.	3
HP:0000527	HP:0000527	Long eyelashes	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000527	HP:0000527	Long eyelashes	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0000527	HP:0000527	Long eyelashes	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000527	HP:0000527	Long eyelashes	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000527	HP:0000527	Long eyelashes	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000527	HP:0000527	Long eyelashes	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000527	HP:0000527	Long eyelashes	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000527	HP:0000527	Long eyelashes	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0000527	HP:0000527	Long eyelashes	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000527	HP:0000527	Long eyelashes	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000527	HP:0000527	Long eyelashes	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000527	HP:0000527	Long eyelashes	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000527	HP:0000527	Long eyelashes	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000527	HP:0000527	Long eyelashes	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0000527	HP:0000527	Long eyelashes	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0000527	HP:0000527	Long eyelashes	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0000527	HP:0000527	Long eyelashes	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000527	HP:0000527	Long eyelashes	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0000527	HP:0000527	Long eyelashes	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0000527	HP:0000527	Long eyelashes	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000527	HP:0000527	Long eyelashes	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0000527	HP:0000527	Long eyelashes	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	.	53
HP:0000527	HP:0000527	Long eyelashes	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0000527	HP:0000527	Long eyelashes	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0000527	HP:0000527	Long eyelashes	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0000527	HP:0000527	Long eyelashes	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000527	HP:0000527	Long eyelashes	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	12
HP:0000527	HP:0000527	Long eyelashes	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000527	HP:0000527	Long eyelashes	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.	5
HP:0000527	HP:0000527	Long eyelashes	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000527	HP:0000527	Long eyelashes	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000527	HP:0000527	Long eyelashes	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0000527	HP:0000527	Long eyelashes	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000527	HP:0000527	Long eyelashes	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000527	HP:0000527	Long eyelashes	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000527	HP:0000527	Long eyelashes	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000527	HP:0000527	Long eyelashes	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0000527	HP:0000527	Long eyelashes	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent	37
HP:0000527	HP:0000527	Long eyelashes	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000527	HP:0000527	Long eyelashes	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0000527	HP:0000527	Long eyelashes	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000527	HP:0000527	Long eyelashes	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000527	HP:0000527	Long eyelashes	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000527	HP:0000527	Long eyelashes	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0000527	HP:0000527	Long eyelashes	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000527	HP:0000527	Long eyelashes	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000527	HP:0000527	Long eyelashes	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0000527	HP:0000527	Long eyelashes	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0000527	HP:0000527	Long eyelashes	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0000527	HP:0000527	Long eyelashes	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0000527	HP:0000527	Long eyelashes	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0000527	HP:0000527	Long eyelashes	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000527	HP:0000527	Long eyelashes	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0000527	HP:0000527	Long eyelashes	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000527	HP:0000527	Long eyelashes	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000527	HP:0000527	Long eyelashes	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0000527	HP:0000527	Long eyelashes	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0000527	HP:0000527	Long eyelashes	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000527	HP:0000527	Long eyelashes	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0000527	HP:0000527	Long eyelashes	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000527	HP:0000527	Long eyelashes	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000527	HP:0000527	Long eyelashes	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000527	HP:0000527	Long eyelashes	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000527	HP:0000527	Long eyelashes	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000527	HP:0000527	Long eyelashes	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000527	HP:0000527	Long eyelashes	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000527	HP:0000527	Long eyelashes	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000527	HP:0000527	Long eyelashes	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000527	HP:0000527	Long eyelashes	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0000527	HP:0000527	Long eyelashes	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000527	HP:0000527	Long eyelashes	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0000527	HP:0000527	Long eyelashes	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000527	HP:0000527	Long eyelashes	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000527	HP:0000527	Long eyelashes	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000527	HP:0000527	Long eyelashes	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0000527	HP:0000527	Long eyelashes	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0000527	HP:0000527	Long eyelashes	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0000527	HP:0000527	Long eyelashes	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0000527	HP:0000527	Long eyelashes	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000527	HP:0000527	Long eyelashes	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0000527	HP:0000527	Long eyelashes	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000527	HP:0000527	Long eyelashes	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0000527	HP:0000527	Long eyelashes	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000527	HP:0000527	Long eyelashes	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000527	HP:0000527	Long eyelashes	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000527	HP:0000527	Long eyelashes	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000527	HP:0000527	Long eyelashes	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0000527	HP:0000527	Long eyelashes	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0000527	HP:0000527	Long eyelashes	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional	21
HP:0000527	HP:0000527	Long eyelashes	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0000527	HP:0000527	Long eyelashes	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0000527	HP:0000527	Long eyelashes	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII	.
HP:0000527	HP:0000527	Long eyelashes	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0000527	HP:0000527	Long eyelashes	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000527	HP:0000527	Long eyelashes	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000527	HP:0000527	Long eyelashes	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0000527	HP:0000527	Long eyelashes	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0000527	HP:0000527	Long eyelashes	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000527	HP:0000527	Long eyelashes	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000527	HP:0000527	Long eyelashes	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0000527	HP:0000527	Long eyelashes	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000527	HP:0000527	Long eyelashes	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000527	HP:0000527	Long eyelashes	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000527	HP:0007840	Long upper eyelashes	1	CL E G H
HP:0000527	HP:0040053	Long lower eyelashes	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000527	HP:0040053	Long lower eyelashes	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000527	HP:0007740	Long eyelashes in irregular rows	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000527	HP:0007740	Long eyelashes in irregular rows	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000527	HP:0007740	Long eyelashes in irregular rows	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent