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 optic nerve (HP:0000587)

Grandparent Node:
Aplasia/Hypoplasia affecting the fundus (HP:0008057)

Parent Node:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Parent Node:
Aplasia/Hypoplasia of the optic nerve (HP:0008058)

..Starting node
..Optic nerve hypoplasia (HP:0000609)

Term ID:

609

Name:

Optic nerve hypoplasia

Synonym:

Hypoplastic optic nerves; Underdeveloped optic nerves

Definition:

Underdevelopment of the optic nerve.

Comments:

Reference:

HP:0000609

Genes and Diseases:

Child Nodes:

........

Septo-optic dysplasia (HP:0100842)

Sister Nodes:

Optic disc hypoplasia (HP:0007766)

Optic nerve aplasia (HP:0012521)

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:0000609	HP:0000609	Optic nerve hypoplasia	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8	.	10
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional	118
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		1
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional	29
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	HP:0040283 - Occasional	12
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	172
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0000609	HP:0000609	Optic nerve hypoplasia	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:0000609	HP:0000609	Optic nerve hypoplasia	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	HP:0040284 - Very rare
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	21
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0000609	HP:0000609	Optic nerve hypoplasia	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:0040283 - Occasional	8
HP:0000609	HP:0000609	Optic nerve hypoplasia	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:0040283 - Occasional	8
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome		2
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent	22
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040283 - Occasional	96
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	OTX2 CL E G H	5015	8522	OMIM:610125	Microphthalmia, syndromic 5	.	41
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	41
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia	.	194
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040280 - Obligate	194
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	34
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures	HP:0040284 - Very rare	113
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional	357
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	33
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	24
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent	21
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia	.	177
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000609	HP:0000609	Optic nerve hypoplasia	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000609	HP:0100842	Septo-optic dysplasia	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0000609	HP:0100842	Septo-optic dysplasia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000609	HP:0100842	Septo-optic dysplasia	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0000609	HP:0100842	Septo-optic dysplasia	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	172
HP:0000609	HP:0100842	Septo-optic dysplasia	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0000609	HP:0100842	Septo-optic dysplasia	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0000609	HP:0100842	Septo-optic dysplasia	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	2
HP:0000609	HP:0100842	Septo-optic dysplasia	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0000609	HP:0100842	Septo-optic dysplasia	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	21
HP:0000609	HP:0100842	Septo-optic dysplasia	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	21
HP:0000609	HP:0100842	Septo-optic dysplasia	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0000609	HP:0100842	Septo-optic dysplasia	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	43
HP:0000609	HP:0100842	Septo-optic dysplasia	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0000609	HP:0100842	Septo-optic dysplasia	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	41
HP:0000609	HP:0100842	Septo-optic dysplasia	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0000609	HP:0100842	Septo-optic dysplasia	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	34
HP:0000609	HP:0100842	Septo-optic dysplasia	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	34
HP:0000609	HP:0100842	Septo-optic dysplasia	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0000609	HP:0100842	Septo-optic dysplasia	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	7
HP:0000609	HP:0100842	Septo-optic dysplasia	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000609	HP:0100842	Septo-optic dysplasia	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	33
HP:0000609	HP:0100842	Septo-optic dysplasia	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	24
HP:0000609	HP:0100842	Septo-optic dysplasia	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0000609	HP:0100842	Septo-optic dysplasia	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	10
HP:0000609	HP:0100842	Septo-optic dysplasia	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12

Genes (84) :ALDH1A2 ALDH1A3 ANKRD11 ARNT2 ARSL ATAD3A B3GALNT2 CACNA1C CASK CDC42BPB CDON CENPF CEP85L CRPPA DDHD2 DNMT3A ERF FANCI FDFT1 FGFR1 FKRP FKTN FOXA2 GATAD2B GLI2 GLYCTK GMPPB GPR161 GRIA4 HESX1 HNRNPK IFT74 KCNK4 KIF14 KNSTRN LARGE1 LHX3 LHX4 MACF1 MAP2K2 MBTPS2 MED12 MEF2C NDE1 NEFL NFIX NR2F1 OTUD5 OTX2 PAX6 PIK3CD POGZ POMGNT1 POMK POMT1 POMT2 POU1F1 PPP1CB PPP2R1A PROKR2 PROP1 PTF1A PTPN23 PUF60 RNF113A RNF135 ROBO1 RSPO2 RTTN SCN8A SIX6 SON SOX2 SOX3 SPOP STAG2 TUBA1A TUBA8 TUBB3 WDR11 WNT3 WT1 ZIC1 ZPR1

Diseases (71) :OMIM:620025 OMIM:615113 ORPHA:261250 ORPHA:3157 ORPHA:79345 ORPHA:496790 OMIM:615181 OMIM:620029 OMIM:300749 ORPHA:163937 OMIM:619841 ORPHA:95496 OMIM:243605 ORPHA:572013 OMIM:614643 OMIM:615033 OMIM:615879 OMIM:600775 OMIM:609053 OMIM:618156 ORPHA:370959 OMIM:236670 ORPHA:95494 ORPHA:363686 OMIM:610829 OMIM:220120 OMIM:617864 ORPHA:226307 OMIM:182230 ORPHA:352665 ORPHA:453504 OMIM:619582 OMIM:618381 OMIM:617914 ORPHA:221139 OMIM:615280 ORPHA:85284 ORPHA:93932 ORPHA:228384 ORPHA:2177 ORPHA:101085 OMIM:602535 ORPHA:401777 OMIM:301056 OMIM:610125 OMIM:106210 ORPHA:137902 OMIM:165550 OMIM:616364 OMIM:617506 ORPHA:457284 OMIM:609069 ORPHA:65288 OMIM:618890 ORPHA:508488 ORPHA:508498 OMIM:300953 ORPHA:137634 ORPHA:3301 ORPHA:468631 OMIM:614833 OMIM:614306 OMIM:206900 ORPHA:500150 OMIM:618828 OMIM:301043 ORPHA:171680 ORPHA:250972 ORPHA:300570 OMIM:618736 OMIM:619321

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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