Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Grandparent Node:
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Aplasia/Hypoplasia affecting the eye (HP:0008056)help
Parent Node:
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Abnormality of the optic nerve (HP:0000587)help
Parent Node:
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Aplasia/Hypoplasia affecting the fundus (HP:0008057)help
..Starting node
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Aplasia/Hypoplasia of the optic nerve (HP:0008058)help
Term ID: 8058
Name: Aplasia/Hypoplasia of the optic nerve
Synonym: Absent/small optic nerve; Absent/underdeveloped optic nerve
Definition:
Comments:
Reference: HP:0008058
Genes and Diseases:
 
       Child Nodes:
........expandOptic nerve hypoplasia (HP:0000609) help
................... HP:0100842 Septo-optic dysplasia
........expandOptic disc hypoplasia (HP:0007766) help
........expandOptic nerve aplasia (HP:0012521) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ALDH1A2 CL E G H885415472OMIM:620025
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CACNA1C CL E G H7751390OMIM:620029572
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CDC42BPB CL E G H95781738OMIM:619841
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndrome200
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndrome2
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndrome21
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia21
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndrome43
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndrome132
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0NDE1 CL E G H5482017619ORPHA:2177Hydranencephaly96
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndrome40
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 541
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasia194
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PAX6 CL E G H50808620OMIM:165550OPTIC NERVE HYPOPLASIA, BILATERAL194
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PLXNA1 CL E G H53619099OMIM:619955
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndrome34
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis22
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PTF1A CL E G H25629723734ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome22
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive3
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndrome7
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasia21
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndrome10
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0008058HP:0008058Aplasia/Hypoplasia of the optic nerve0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008058HP:0000609Optic nerve hypoplasia1ALDH1A2 CL E G H885415472OMIM:620025
HP:0008058HP:0000609Optic nerve hypoplasia1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 8.10
HP:0008058HP:0000609Optic nerve hypoplasia1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0008058HP:0007766Optic disc hypoplasia1APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040283 - Occasional3179
HP:0008058HP:0000609Optic nerve hypoplasia1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent
HP:0008058HP:0007766Optic disc hypoplasia1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040284 - Very rare
HP:0008058HP:0000609Optic nerve hypoplasia1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040284 - Very rare
HP:0008058HP:0000609Optic nerve hypoplasia1ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0008058HP:0000609Optic nerve hypoplasia1B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0008058HP:0000609Optic nerve hypoplasia1CACNA1C CL E G H7751390OMIM:620029572
HP:0008058HP:0000609Optic nerve hypoplasia1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0008058HP:0000609Optic nerve hypoplasia1CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0008058HP:0000609Optic nerve hypoplasia1CDC42BPB CL E G H95781738OMIM:619841
HP:0008058HP:0000609Optic nerve hypoplasia1CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndrome200
HP:0008058HP:0000609Optic nerve hypoplasia1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0008058HP:0000609Optic nerve hypoplasia1CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0008058HP:0007766Optic disc hypoplasia1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0008058HP:0000609Optic nerve hypoplasia1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0008058HP:0007766Optic disc hypoplasia1DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040282 - Frequent29
HP:0008058HP:0000609Optic nerve hypoplasia1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessiveHP:0040283 - Occasional29
HP:0008058HP:0000609Optic nerve hypoplasia1DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome.44
HP:0008058HP:0000609Optic nerve hypoplasia1ERF CL E G H20773444OMIM:600775Craniosynostosis 4HP:0040283 - Occasional12
HP:0008058HP:0007766Optic disc hypoplasia1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0008058HP:0007766Optic disc hypoplasia1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0008058HP:0000609Optic nerve hypoplasia1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0008058HP:0000609Optic nerve hypoplasia1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008058HP:0000609Optic nerve hypoplasia1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent172
HP:0008058HP:0000609Optic nerve hypoplasia1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0008058HP:0000609Optic nerve hypoplasia1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0008058HP:0000609Optic nerve hypoplasia1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0008058HP:0000609Optic nerve hypoplasia1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0008058HP:0000609Optic nerve hypoplasia1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0008058HP:0007766Optic disc hypoplasia1GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0008058HP:0007766Optic disc hypoplasia1GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0008058HP:0000609Optic nerve hypoplasia1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0008058HP:0000609Optic nerve hypoplasia1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0008058HP:0000609Optic nerve hypoplasia1GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0008058HP:0000609Optic nerve hypoplasia1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0008058HP:0000609Optic nerve hypoplasia1GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndrome2
HP:0008058HP:0000609Optic nerve hypoplasia1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalitiesHP:0040284 - Very rare
HP:0008058HP:0000609Optic nerve hypoplasia1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0008058HP:0000609Optic nerve hypoplasia1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0008058HP:0000609Optic nerve hypoplasia1HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndrome21
HP:0008058HP:0000609Optic nerve hypoplasia1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent21
HP:0008058HP:0007766Optic disc hypoplasia1HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia.21
HP:0008058HP:0000609Optic nerve hypoplasia1HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia.21
HP:0008058HP:0000609Optic nerve hypoplasia1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0008058HP:0000609Optic nerve hypoplasia1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0008058HP:0007766Optic disc hypoplasia1HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040283 - Occasional39
HP:0008058HP:0000609Optic nerve hypoplasia1IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0008058HP:0000609Optic nerve hypoplasia1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0008058HP:0000609Optic nerve hypoplasia1KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0008058HP:0000609Optic nerve hypoplasia1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0008058HP:0000609Optic nerve hypoplasia1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0008058HP:0000609Optic nerve hypoplasia1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0008058HP:0000609Optic nerve hypoplasia1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0008058HP:0000609Optic nerve hypoplasia1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0008058HP:0000609Optic nerve hypoplasia1LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndrome43
HP:0008058HP:0000609Optic nerve hypoplasia1MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0008058HP:0007766Optic disc hypoplasia1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0008058HP:0000609Optic nerve hypoplasia1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0008058HP:0000609Optic nerve hypoplasia1MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0008058HP:0000609Optic nerve hypoplasia1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0008058HP:0000609Optic nerve hypoplasia1MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040283 - Occasional132
HP:0008058HP:0000609Optic nerve hypoplasia1NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040283 - Occasional96
HP:0008058HP:0000609Optic nerve hypoplasia1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0008058HP:0007766Optic disc hypoplasia1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0008058HP:0000609Optic nerve hypoplasia1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0008058HP:0007766Optic disc hypoplasia1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0008058HP:0000609Optic nerve hypoplasia1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0008058HP:0000609Optic nerve hypoplasia1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008058HP:0000609Optic nerve hypoplasia1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0008058HP:0000609Optic nerve hypoplasia1OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0008058HP:0000609Optic nerve hypoplasia1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent41
HP:0008058HP:0000609Optic nerve hypoplasia1PAX6 CL E G H50808620OMIM:106210Aniridia.194
HP:0008058HP:0012521Optic nerve aplasia1PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0008058HP:0000609Optic nerve hypoplasia1PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasiaHP:0040280 - Obligate194
HP:0008058HP:0007766Optic disc hypoplasia1PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasiaHP:0040281 - Very frequent194
HP:0008058HP:0012521Optic nerve aplasia1PAX6 CL E G H50808620OMIM:165550OPTIC NERVE HYPOPLASIA, BILATERAL194
HP:0008058HP:0000609Optic nerve hypoplasia1PAX6 CL E G H50808620OMIM:165550OPTIC NERVE HYPOPLASIA, BILATERAL194
HP:0008058HP:0000609Optic nerve hypoplasia1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0008058HP:0007766Optic disc hypoplasia1PLXNA1 CL E G H53619099OMIM:619955
HP:0008058HP:0000609Optic nerve hypoplasia1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008058HP:0007766Optic disc hypoplasia1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040284 - Very rare138
HP:0008058HP:0000609Optic nerve hypoplasia1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0008058HP:0000609Optic nerve hypoplasia1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0008058HP:0000609Optic nerve hypoplasia1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0008058HP:0000609Optic nerve hypoplasia1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0008058HP:0000609Optic nerve hypoplasia1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0008058HP:0000609Optic nerve hypoplasia1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0008058HP:0000609Optic nerve hypoplasia1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0008058HP:0000609Optic nerve hypoplasia1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0008058HP:0000609Optic nerve hypoplasia1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008058HP:0000609Optic nerve hypoplasia1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0008058HP:0000609Optic nerve hypoplasia1PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndrome34
HP:0008058HP:0000609Optic nerve hypoplasia1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent34
HP:0008058HP:0000609Optic nerve hypoplasia1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0008058HP:0000609Optic nerve hypoplasia1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0008058HP:0000609Optic nerve hypoplasia1PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0008058HP:0000609Optic nerve hypoplasia1PTF1A CL E G H25629723734ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeHP:0040281 - Very frequent22
HP:0008058HP:0000609Optic nerve hypoplasia1PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0008058HP:0000609Optic nerve hypoplasia1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0008058HP:0000609Optic nerve hypoplasia1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0008058HP:0000609Optic nerve hypoplasia1RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0008058HP:0000609Optic nerve hypoplasia1RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0008058HP:0000609Optic nerve hypoplasia1ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndrome7
HP:0008058HP:0000609Optic nerve hypoplasia1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0008058HP:0000609Optic nerve hypoplasia1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0008058HP:0000609Optic nerve hypoplasia1RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizuresHP:0040284 - Very rare113
HP:0008058HP:0007766Optic disc hypoplasia1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0008058HP:0007766Optic disc hypoplasia1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0008058HP:0007766Optic disc hypoplasia1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0008058HP:0000609Optic nerve hypoplasia1SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxiaHP:0040283 - Occasional357
HP:0008058HP:0012521Optic nerve aplasia1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0008058HP:0000609Optic nerve hypoplasia1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0008058HP:0007766Optic disc hypoplasia1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.94
HP:0008058HP:0000609Optic nerve hypoplasia1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0008058HP:0000609Optic nerve hypoplasia1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0008058HP:0012521Optic nerve aplasia1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0008058HP:0000609Optic nerve hypoplasia1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent33
HP:0008058HP:0000609Optic nerve hypoplasia1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent24
HP:0008058HP:0000609Optic nerve hypoplasia1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0008058HP:0007766Optic disc hypoplasia1SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040282 - Frequent80
HP:0008058HP:0000609Optic nerve hypoplasia1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0008058HP:0007766Optic disc hypoplasia1TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35HP:0040284 - Very rare12
HP:0008058HP:0000609Optic nerve hypoplasia1TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0008058HP:0000609Optic nerve hypoplasia1TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasiaHP:0040281 - Very frequent21
HP:0008058HP:0000609Optic nerve hypoplasia1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0008058HP:0000609Optic nerve hypoplasia1WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndrome10
HP:0008058HP:0000609Optic nerve hypoplasia1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0008058HP:0000609Optic nerve hypoplasia1WT1 CL E G H749012796OMIM:106210Aniridia.177
HP:0008058HP:0000609Optic nerve hypoplasia1ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0008058HP:0000609Optic nerve hypoplasia1ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008058HP:0100842Septo-optic dysplasia2ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent
HP:0008058HP:0100842Septo-optic dysplasia2CDC42BPB CL E G H95781738OMIM:619841
HP:0008058HP:0100842Septo-optic dysplasia2CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional200
HP:0008058HP:0100842Septo-optic dysplasia2FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent172
HP:0008058HP:0100842Septo-optic dysplasia2FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0008058HP:0100842Septo-optic dysplasia2GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0008058HP:0100842Septo-optic dysplasia2GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional2
HP:0008058HP:0100842Septo-optic dysplasia2HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0008058HP:0100842Septo-optic dysplasia2HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional21
HP:0008058HP:0100842Septo-optic dysplasia2HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent21
HP:0008058HP:0100842Septo-optic dysplasia2LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0008058HP:0100842Septo-optic dysplasia2LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional43
HP:0008058HP:0100842Septo-optic dysplasia2OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0008058HP:0100842Septo-optic dysplasia2OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent41
HP:0008058HP:0100842Septo-optic dysplasia2POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0008058HP:0100842Septo-optic dysplasia2PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional34
HP:0008058HP:0100842Septo-optic dysplasia2PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent34
HP:0008058HP:0100842Septo-optic dysplasia2PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0008058HP:0100842Septo-optic dysplasia2ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional7
HP:0008058HP:0100842Septo-optic dysplasia2RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0008058HP:0100842Septo-optic dysplasia2SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent33
HP:0008058HP:0100842Septo-optic dysplasia2SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040281 - Very frequent24
HP:0008058HP:0100842Septo-optic dysplasia2STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0008058HP:0100842Septo-optic dysplasia2WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional10
HP:0008058HP:0100842Septo-optic dysplasia2WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12


Genes (99) :ALDH1A2 ALDH1A3 ANKRD11 APC ARNT2 ARSL ATAD3A B3GALNT2 CACNA1C CASK CDC42BPB CDON CENPF CEP85L CHN1 CRPPA DDHD2 DNMT3A ERF EXOC2 FANCB FANCI FDFT1 FGFR1 FKRP FKTN FOXA2 GATAD2B GDF3 GDF6 GLI2 GLYCTK GMPPB GPR161 GRIA4 HESX1 HNRNPK HNRNPU IFT74 KCNK4 KIF14 KNSTRN LARGE1 LHX3 LHX4 MACF1 MAFB MAP2K2 MBTPS2 MED12 MEF2C NDE1 NEFL NFIX NR2F1 OTUD5 OTX2 PAX6 PIK3CD PLXNA1 POGZ POLR3A POMGNT1 POMK POMT1 POMT2 POU1F1 PPP1CB PPP2R1A PROKR2 PROP1 PRPS1 PTF1A PTPN23 PUF60 RNF113A RNF135 ROBO1 RSPO2 RTTN SALL4 SCN8A SIX6 SNAP29 SON SOX2 SOX3 SPOP SRD5A3 STAG2 TRIT1 TUBA1A TUBA8 TUBB3 WDR11 WNT3 WT1 ZIC1 ZPR1

Diseases (88) :OMIM:620025 OMIM:615113 ORPHA:261250 ORPHA:261584 ORPHA:3157 ORPHA:79345 ORPHA:496790 OMIM:615181 OMIM:620029 OMIM:300749 ORPHA:163937 OMIM:619841 ORPHA:95496 OMIM:243605 ORPHA:572013 ORPHA:233 OMIM:614643 ORPHA:320380 OMIM:615033 OMIM:615879 OMIM:600775 OMIM:619306 OMIM:300514 OMIM:609053 OMIM:618156 ORPHA:370959 OMIM:236670 ORPHA:95494 ORPHA:363686 OMIM:613703 OMIM:610829 OMIM:220120 OMIM:617864 ORPHA:226307 OMIM:182230 ORPHA:352665 ORPHA:453504 ORPHA:238769 OMIM:619582 OMIM:618381 OMIM:617914 ORPHA:221139 OMIM:615280 ORPHA:85284 ORPHA:93932 ORPHA:228384 ORPHA:2177 ORPHA:101085 ORPHA:420179 OMIM:602535 ORPHA:401777 OMIM:301056 OMIM:610125 OMIM:106210 OMIM:120200 ORPHA:137902 OMIM:165550 OMIM:619955 OMIM:616364 ORPHA:3455 OMIM:617506 ORPHA:457284 ORPHA:423479 OMIM:609069 ORPHA:65288 OMIM:618890 ORPHA:508488 ORPHA:508498 OMIM:300953 ORPHA:137634 ORPHA:3301 ORPHA:468631 OMIM:614833 ORPHA:959 OMIM:607323 OMIM:614306 OMIM:206900 OMIM:609528 ORPHA:500150 OMIM:618828 ORPHA:324737 OMIM:301043 OMIM:617873 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.