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 oral cavity morphology (HP:0000163)

Parent Node:
Abnormality of mouth shape (HP:0011338)

..Starting node
..Downturned corners of mouth (HP:0002714)

Term ID:

2714

Name:

Downturned corners of mouth

Synonym:

Downturned corners of mouth; Downturned corners of the mouth; Downturned mouth; Downturned oral commisures

Definition:

A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.

Comments:

Reference:

HP:0002714

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetry of the mouth (HP:0009941)

Open mouth (HP:0000194)

Pursed lips (HP:0000205)

Transverse facial cleft (HP:0100731)

Triangular mouth (HP:0000207)

Upturned corners of mouth (HP:0010805)

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:0002714	HP:0002714	Downturned corners of mouth	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0002714	HP:0002714	Downturned corners of mouth	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0002714	HP:0002714	Downturned corners of mouth	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002714	HP:0002714	Downturned corners of mouth	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0002714	HP:0002714	Downturned corners of mouth	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:0040283 - Occasional	6
HP:0002714	HP:0002714	Downturned corners of mouth	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	132
HP:0002714	HP:0002714	Downturned corners of mouth	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0002714	HP:0002714	Downturned corners of mouth	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0002714	HP:0002714	Downturned corners of mouth	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0002714	HP:0002714	Downturned corners of mouth	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0002714	HP:0002714	Downturned corners of mouth	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0002714	HP:0002714	Downturned corners of mouth	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0002714	HP:0002714	Downturned corners of mouth	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0002714	HP:0002714	Downturned corners of mouth	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002714	HP:0002714	Downturned corners of mouth	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0002714	HP:0002714	Downturned corners of mouth	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002714	HP:0002714	Downturned corners of mouth	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0002714	HP:0002714	Downturned corners of mouth	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0002714	HP:0002714	Downturned corners of mouth	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002714	HP:0002714	Downturned corners of mouth	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0002714	HP:0002714	Downturned corners of mouth	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0002714	HP:0002714	Downturned corners of mouth	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002714	HP:0002714	Downturned corners of mouth	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0002714	HP:0002714	Downturned corners of mouth	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0002714	HP:0002714	Downturned corners of mouth	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0002714	HP:0002714	Downturned corners of mouth	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0002714	HP:0002714	Downturned corners of mouth	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0002714	HP:0002714	Downturned corners of mouth	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0002714	HP:0002714	Downturned corners of mouth	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002714	HP:0002714	Downturned corners of mouth	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0002714	HP:0002714	Downturned corners of mouth	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0002714	HP:0002714	Downturned corners of mouth	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0002714	HP:0002714	Downturned corners of mouth	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0002714	HP:0002714	Downturned corners of mouth	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002714	HP:0002714	Downturned corners of mouth	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0002714	HP:0002714	Downturned corners of mouth	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0002714	HP:0002714	Downturned corners of mouth	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0002714	HP:0002714	Downturned corners of mouth	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0002714	HP:0002714	Downturned corners of mouth	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0002714	HP:0002714	Downturned corners of mouth	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0002714	HP:0002714	Downturned corners of mouth	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent	223
HP:0002714	HP:0002714	Downturned corners of mouth	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent	8
HP:0002714	HP:0002714	Downturned corners of mouth	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	102
HP:0002714	HP:0002714	Downturned corners of mouth	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0002714	HP:0002714	Downturned corners of mouth	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0002714	HP:0002714	Downturned corners of mouth	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002714	HP:0002714	Downturned corners of mouth	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0002714	HP:0002714	Downturned corners of mouth	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0002714	HP:0002714	Downturned corners of mouth	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	237
HP:0002714	HP:0002714	Downturned corners of mouth	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0002714	HP:0002714	Downturned corners of mouth	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0002714	HP:0002714	Downturned corners of mouth	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002714	HP:0002714	Downturned corners of mouth	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0002714	HP:0002714	Downturned corners of mouth	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0002714	HP:0002714	Downturned corners of mouth	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0002714	HP:0002714	Downturned corners of mouth	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002714	HP:0002714	Downturned corners of mouth	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0002714	HP:0002714	Downturned corners of mouth	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002714	HP:0002714	Downturned corners of mouth	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent	10
HP:0002714	HP:0002714	Downturned corners of mouth	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0002714	HP:0002714	Downturned corners of mouth	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0002714	HP:0002714	Downturned corners of mouth	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0002714	HP:0002714	Downturned corners of mouth	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0002714	HP:0002714	Downturned corners of mouth	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0002714	HP:0002714	Downturned corners of mouth	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0002714	HP:0002714	Downturned corners of mouth	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0002714	HP:0002714	Downturned corners of mouth	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0002714	HP:0002714	Downturned corners of mouth	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0002714	HP:0002714	Downturned corners of mouth	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	62
HP:0002714	HP:0002714	Downturned corners of mouth	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002714	HP:0002714	Downturned corners of mouth	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002714	HP:0002714	Downturned corners of mouth	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0002714	HP:0002714	Downturned corners of mouth	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0002714	HP:0002714	Downturned corners of mouth	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002714	HP:0002714	Downturned corners of mouth	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0002714	HP:0002714	Downturned corners of mouth	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0002714	HP:0002714	Downturned corners of mouth	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0002714	HP:0002714	Downturned corners of mouth	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0002714	HP:0002714	Downturned corners of mouth	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0002714	HP:0002714	Downturned corners of mouth	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0002714	HP:0002714	Downturned corners of mouth	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0002714	HP:0002714	Downturned corners of mouth	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002714	HP:0002714	Downturned corners of mouth	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0002714	HP:0002714	Downturned corners of mouth	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0002714	HP:0002714	Downturned corners of mouth	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0002714	HP:0002714	Downturned corners of mouth	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0002714	HP:0002714	Downturned corners of mouth	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002714	HP:0002714	Downturned corners of mouth	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040283 - Occasional	106
HP:0002714	HP:0002714	Downturned corners of mouth	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040283 - Occasional	63
HP:0002714	HP:0002714	Downturned corners of mouth	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0002714	HP:0002714	Downturned corners of mouth	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0002714	HP:0002714	Downturned corners of mouth	0	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:0002714	HP:0002714	Downturned corners of mouth	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0002714	HP:0002714	Downturned corners of mouth	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0002714	HP:0002714	Downturned corners of mouth	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0002714	HP:0002714	Downturned corners of mouth	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0002714	HP:0002714	Downturned corners of mouth	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002714	HP:0002714	Downturned corners of mouth	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0002714	HP:0002714	Downturned corners of mouth	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0002714	HP:0002714	Downturned corners of mouth	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0002714	HP:0002714	Downturned corners of mouth	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0002714	HP:0002714	Downturned corners of mouth	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002714	HP:0002714	Downturned corners of mouth	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002714	HP:0002714	Downturned corners of mouth	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0002714	HP:0002714	Downturned corners of mouth	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0002714	HP:0002714	Downturned corners of mouth	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0002714	HP:0002714	Downturned corners of mouth	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0002714	HP:0002714	Downturned corners of mouth	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0002714	HP:0002714	Downturned corners of mouth	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0002714	HP:0002714	Downturned corners of mouth	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0002714	HP:0002714	Downturned corners of mouth	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0002714	HP:0002714	Downturned corners of mouth	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0002714	HP:0002714	Downturned corners of mouth	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002714	HP:0002714	Downturned corners of mouth	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002714	HP:0002714	Downturned corners of mouth	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0002714	HP:0002714	Downturned corners of mouth	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0002714	HP:0002714	Downturned corners of mouth	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0002714	HP:0002714	Downturned corners of mouth	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0002714	HP:0002714	Downturned corners of mouth	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	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:0002714	HP:0002714	Downturned corners of mouth	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0002714	HP:0002714	Downturned corners of mouth	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0002714	HP:0002714	Downturned corners of mouth	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0002714	HP:0002714	Downturned corners of mouth	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0002714	HP:0002714	Downturned corners of mouth	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0002714	HP:0002714	Downturned corners of mouth	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0002714	HP:0002714	Downturned corners of mouth	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0002714	HP:0002714	Downturned corners of mouth	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0002714	HP:0002714	Downturned corners of mouth	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	20
HP:0002714	HP:0002714	Downturned corners of mouth	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	36
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	84
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	57
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	6
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0002714	HP:0002714	Downturned corners of mouth	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0002714	HP:0002714	Downturned corners of mouth	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0002714	HP:0002714	Downturned corners of mouth	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0002714	HP:0002714	Downturned corners of mouth	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0002714	HP:0002714	Downturned corners of mouth	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002714	HP:0002714	Downturned corners of mouth	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0002714	HP:0002714	Downturned corners of mouth	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0002714	HP:0002714	Downturned corners of mouth	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0002714	HP:0002714	Downturned corners of mouth	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002714	HP:0002714	Downturned corners of mouth	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002714	HP:0002714	Downturned corners of mouth	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0002714	HP:0002714	Downturned corners of mouth	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0002714	HP:0002714	Downturned corners of mouth	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0002714	HP:0002714	Downturned corners of mouth	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0002714	HP:0002714	Downturned corners of mouth	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0002714	HP:0002714	Downturned corners of mouth	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0002714	HP:0002714	Downturned corners of mouth	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0002714	HP:0002714	Downturned corners of mouth	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0002714	HP:0002714	Downturned corners of mouth	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0002714	HP:0002714	Downturned corners of mouth	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent	43
HP:0002714	HP:0002714	Downturned corners of mouth	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0002714	HP:0002714	Downturned corners of mouth	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002714	HP:0002714	Downturned corners of mouth	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0002714	HP:0002714	Downturned corners of mouth	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0002714	HP:0002714	Downturned corners of mouth	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002714	HP:0002714	Downturned corners of mouth	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0002714	HP:0002714	Downturned corners of mouth	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0002714	HP:0002714	Downturned corners of mouth	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0002714	HP:0002714	Downturned corners of mouth	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0002714	HP:0002714	Downturned corners of mouth	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0002714	HP:0002714	Downturned corners of mouth	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002714	HP:0002714	Downturned corners of mouth	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002714	HP:0002714	Downturned corners of mouth	0	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:0002714	HP:0002714	Downturned corners of mouth	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0002714	HP:0002714	Downturned corners of mouth	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0002714	HP:0002714	Downturned corners of mouth	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0002714	HP:0002714	Downturned corners of mouth	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002714	HP:0002714	Downturned corners of mouth	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002714	HP:0002714	Downturned corners of mouth	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0002714	HP:0002714	Downturned corners of mouth	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0002714	HP:0002714	Downturned corners of mouth	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional	14
HP:0002714	HP:0002714	Downturned corners of mouth	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	110
HP:0002714	HP:0002714	Downturned corners of mouth	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0002714	HP:0002714	Downturned corners of mouth	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0002714	HP:0002714	Downturned corners of mouth	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002714	HP:0002714	Downturned corners of mouth	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0002714	HP:0002714	Downturned corners of mouth	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0002714	HP:0002714	Downturned corners of mouth	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0002714	HP:0002714	Downturned corners of mouth	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0002714	HP:0002714	Downturned corners of mouth	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional	158
HP:0002714	HP:0002714	Downturned corners of mouth	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.	2
HP:0002714	HP:0002714	Downturned corners of mouth	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0002714	HP:0002714	Downturned corners of mouth	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent	7
HP:0002714	HP:0002714	Downturned corners of mouth	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0002714	HP:0002714	Downturned corners of mouth	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0002714	HP:0002714	Downturned corners of mouth	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0002714	HP:0002714	Downturned corners of mouth	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0002714	HP:0002714	Downturned corners of mouth	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0002714	HP:0002714	Downturned corners of mouth	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0002714	HP:0002714	Downturned corners of mouth	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0002714	HP:0002714	Downturned corners of mouth	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002714	HP:0002714	Downturned corners of mouth	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0002714	HP:0002714	Downturned corners of mouth	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002714	HP:0002714	Downturned corners of mouth	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0002714	HP:0002714	Downturned corners of mouth	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002714	HP:0002714	Downturned corners of mouth	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (170) :ABCC8 AFF3 AFF4 ALX4 ASH1L ATP1A2 ATP1A3 ATP6V1B2 BRD4 BRPF1 CACNA1A CACNA1C CAMTA1 CCDC47 CDC42 CDH11 CDK13 CDK5 CHRNG CNOT3 COLEC10 COLEC11 CPLX1 CSNK2B CTBP1 DCHS1 DHX37 DLK1 DPF2 DPH5 DVL1 DVL3 EBF3 EEF1A2 EHMT1 EIF2S3 EXT2 FAT4 FBXO11 FGFRL1 FOXP1 FZD2 GCK GK GMPPA GNB2 GPC4 GRB10 H19-ICR H3-3A H4C11 H4C5 HACE1 HDAC4 HDAC8 HERC2 HMGA2 HNRNPK HOXB1 HS6ST2 IGF2 INS INTS1 IPW KAT6A KAT8 KCNH1 KCNJ11 KCNMA1 KDM1A KDM4B KIAA0753 KIF15 KIF7 LEMD3 LETM1 LMBR1 MAFB MAGEL2 MASP1 MBD5 MED12L MED13L MEF2C MEG3 MKRN3 MKRN3-AS1 MSL3 MYMX NARS2 NDN NELFA NEXMIF NIPBL NOTCH2 NOVA2 NPAP1 NSD2 NTNG2 NXN OCA2 PACS1 PACS2 PCLO PDX1 PGAP2 PGAP3 PHF21A PIGA PIGG PIGL PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PIK3R1 PLOD3 POGZ POLA1 POLR3A PPP1R15B PRKAR1B PRR12 PWAR1 PWRN1 RAB18 RAD21 RLIM RNU4ATAC ROR2 RTL1 SC5D SCNM1 SETD5 SHMT2 SIM1 SLC1A3 SMARCD1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SON SRCAP STAC3 STAT3 TASP1 TBC1D24 TBL1XR1 TCF20 TELO2 TRAPPC9 TRIP12 TRMT10A TWIST2 UBE2A WAC WDR37 WDR4 WNT5A ZBTB20 ZC4H2 ZMYM2 ZNF407 ZPR1 ZSWIM6

Diseases (153) :ORPHA:79134 ORPHA:99885 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:52022 OMIM:617796 ORPHA:2131 ORPHA:79500 ORPHA:199 OMIM:617333 OMIM:620029 OMIM:614756 OMIM:618268 ORPHA:487796 OMIM:616737 ORPHA:1299 OMIM:617360 OMIM:616342 OMIM:265000 OMIM:618672 ORPHA:293843 OMIM:265050 OMIM:194190 ORPHA:280 OMIM:618732 OMIM:601390 OMIM:618731 ORPHA:254525 OMIM:618027 OMIM:620070 ORPHA:3107 OMIM:180700 OMIM:616894 OMIM:617330 OMIM:616393 ORPHA:96147 ORPHA:85282 OMIM:615546 OMIM:618089 ORPHA:391372 OMIM:307030 OMIM:615510 OMIM:619503 OMIM:301026 ORPHA:96182 OMIM:180860 OMIM:619720 OMIM:619759 OMIM:619950 ORPHA:464282 ORPHA:1001 OMIM:300882 OMIM:176270 ORPHA:94063 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:614744 OMIM:301025 OMIM:618571 OMIM:616268 ORPHA:457193 OMIM:618974 OMIM:611816 OMIM:135500 OMIM:618856 OMIM:618729 OMIM:616728 OMIM:619320 OMIM:619476 ORPHA:261323 OMIM:200990 ORPHA:2378 ORPHA:2774 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:156200 OMIM:618872 ORPHA:369891 OMIM:613443 OMIM:301032 OMIM:619941 OMIM:300912 OMIM:122470 ORPHA:955 OMIM:618859 OMIM:618718 ORPHA:1507 ORPHA:329224 OMIM:615009 OMIM:618067 OMIM:608027 ORPHA:247262 OMIM:300868 OMIM:618548 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:269880 OMIM:612394 ORPHA:468678 OMIM:616364 OMIM:301030 OMIM:264090 ORPHA:3455 OMIM:616817 ORPHA:391408 OMIM:619680 OMIM:619539 OMIM:614222 OMIM:300978 OMIM:616651 ORPHA:353298 ORPHA:46059 OMIM:620107 ORPHA:404440 OMIM:615761 OMIM:619121 ORPHA:398079 OMIM:618779 OMIM:300590 OMIM:301044 OMIM:610759 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:136140 OMIM:255995 ORPHA:168572 OMIM:618950 OMIM:220500 OMIM:616944 OMIM:618430 ORPHA:488642 ORPHA:352530 OMIM:613192 OMIM:617752 ORPHA:1807 OMIM:300860 ORPHA:163956 OMIM:616708 OMIM:618652 OMIM:618347 OMIM:259050 OMIM:301041 OMIM:619522 OMIM:619557 OMIM:619321 OMIM:617865

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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