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 brainstem morphology (HP:0002363)

Grandparent Node:
Abnormal metencephalon morphology (HP:0011283)

Parent Node:
Abnormal pons morphology (HP:0007361)

..Starting node
..Hypoplasia of the pons (HP:0012110)

Term ID:

12110

Name:

Hypoplasia of the pons

Synonym:

Pontine hypoplasia

Definition:

Underdevelopment of the pons.

Comments:

Reference:

HP:0012110

Genes and Diseases:

Child Nodes:

........

Olivopontocerebellar hypoplasia (HP:0006955)

Sister Nodes:

Abnormal superior cerebellar peduncle morphology (HP:0011932)

Hypoplasia of the ventral pons (HP:0006850)

Pontine tegmental cap (HP:0030975)

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:0012110	HP:0012110	Hypoplasia of the pons	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	88
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0012110	HP:0012110	Hypoplasia of the pons	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0012110	HP:0012110	Hypoplasia of the pons	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0012110	HP:0012110	Hypoplasia of the pons	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0012110	HP:0012110	Hypoplasia of the pons	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	HP:0040283 - Occasional	7
HP:0012110	HP:0012110	Hypoplasia of the pons	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0012110	HP:0012110	Hypoplasia of the pons	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0012110	HP:0012110	Hypoplasia of the pons	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012110	HP:0012110	Hypoplasia of the pons	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0012110	HP:0012110	Hypoplasia of the pons	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0012110	HP:0012110	Hypoplasia of the pons	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0012110	HP:0012110	Hypoplasia of the pons	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0012110	HP:0012110	Hypoplasia of the pons	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0012110	HP:0012110	Hypoplasia of the pons	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent	40
HP:0012110	HP:0012110	Hypoplasia of the pons	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012110	HP:0012110	Hypoplasia of the pons	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0012110	HP:0012110	Hypoplasia of the pons	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0012110	HP:0012110	Hypoplasia of the pons	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0012110	HP:0012110	Hypoplasia of the pons	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0012110	HP:0012110	Hypoplasia of the pons	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0012110	HP:0012110	Hypoplasia of the pons	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0012110	HP:0012110	Hypoplasia of the pons	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0012110	HP:0012110	Hypoplasia of the pons	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0012110	HP:0012110	Hypoplasia of the pons	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0012110	HP:0012110	Hypoplasia of the pons	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0012110	HP:0012110	Hypoplasia of the pons	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0012110	HP:0012110	Hypoplasia of the pons	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.	136
HP:0012110	HP:0012110	Hypoplasia of the pons	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	HP:0040284 - Very rare
HP:0012110	HP:0012110	Hypoplasia of the pons	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0012110	HP:0012110	Hypoplasia of the pons	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0012110	HP:0012110	Hypoplasia of the pons	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0012110	HP:0012110	Hypoplasia of the pons	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0012110	HP:0012110	Hypoplasia of the pons	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0012110	HP:0012110	Hypoplasia of the pons	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0012110	HP:0012110	Hypoplasia of the pons	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0012110	HP:0012110	Hypoplasia of the pons	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0012110	HP:0012110	Hypoplasia of the pons	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0012110	HP:0012110	Hypoplasia of the pons	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0012110	HP:0012110	Hypoplasia of the pons	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0012110	HP:0012110	Hypoplasia of the pons	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0012110	HP:0012110	Hypoplasia of the pons	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	948
HP:0012110	HP:0012110	Hypoplasia of the pons	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0012110	HP:0012110	Hypoplasia of the pons	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.	90
HP:0012110	HP:0012110	Hypoplasia of the pons	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0012110	HP:0012110	Hypoplasia of the pons	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0012110	HP:0012110	Hypoplasia of the pons	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0012110	HP:0012110	Hypoplasia of the pons	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0012110	HP:0012110	Hypoplasia of the pons	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0012110	HP:0012110	Hypoplasia of the pons	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0012110	HP:0012110	Hypoplasia of the pons	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0012110	HP:0012110	Hypoplasia of the pons	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0012110	HP:0012110	Hypoplasia of the pons	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0012110	HP:0012110	Hypoplasia of the pons	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent	2
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4		102
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.	102
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5		102
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0012110	HP:0012110	Hypoplasia of the pons	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0012110	HP:0012110	Hypoplasia of the pons	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0012110	HP:0012110	Hypoplasia of the pons	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012110	HP:0012110	Hypoplasia of the pons	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0012110	HP:0012110	Hypoplasia of the pons	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0012110	HP:0012110	Hypoplasia of the pons	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV	.	12
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0012110	HP:0012110	Hypoplasia of the pons	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent	102
HP:0012110	HP:0006955	Olivopontocerebellar hypoplasia	1	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5	.	102

Genes (79) :ADGRG1 AGTPBP1 AHCY ALG3 APC2 ARHGEF2 ASNS ATXN2 ATXN8 ATXN8OS B3GALNT2 BRF1 CASK CDON CLCN3 DCC DISP1 DLL1 DOCK7 EPG5 EXOSC1 EXOSC3 EXOSC8 EXOSC9 FGF8 FKRP FOXH1 GAS1 GLI2 GMPPB GPHN LARGE1 MAB21L1 MACF1 MDH1 MED23 MINPP1 NODAL PCLO PI4KA PIGS PMM2 POGZ POMGNT1 POMK POMT1 POMT2 PPIL1 PPP2R1A PRDM13 PTCH1 PTEN RELN RERE ROBO3 RTTN SHH SIX3 SLC25A46 SLC5A6 SMARCA2 SNX14 STIL STUB1 TDGF1 TGIF1 TOE1 TRAPPC12 TSEN15 TSEN54 TUBA1A TUBB2B TUBB3 UBE2A VPS51 VRK1 WNT1 ZIC1 ZIC2

Diseases (66) :ORPHA:101070 OMIM:606854 OMIM:618276 ORPHA:2254 ORPHA:88618 ORPHA:79321 OMIM:618677 OMIM:617523 OMIM:615574 ORPHA:98756 ORPHA:98760 OMIM:615181 ORPHA:444072 OMIM:616202 OMIM:300749 ORPHA:280195 OMIM:619512 OMIM:617542 ORPHA:411986 OMIM:615859 ORPHA:1493 OMIM:619304 ORPHA:370959 OMIM:613153 OMIM:615350 OMIM:615501 OMIM:613154 OMIM:618479 OMIM:618325 OMIM:618959 OMIM:614249 ORPHA:284339 OMIM:619527 OMIM:608027 OMIM:619708 OMIM:618143 OMIM:212065 ORPHA:468678 OMIM:613151 OMIM:619301 ORPHA:457284 OMIM:619909 OMIM:257320 OMIM:616975 OMIM:607313 ORPHA:468631 OMIM:619303 OMIM:618973 OMIM:619293 ORPHA:397709 ORPHA:412057 OMIM:614969 ORPHA:500144 OMIM:617669 OMIM:617026 ORPHA:166063 OMIM:277470 OMIM:225753 OMIM:610204 ORPHA:467166 ORPHA:300573 ORPHA:163956 OMIM:618606 OMIM:607596 OMIM:615220 OMIM:618736

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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