Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | | | | 10 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | | | | 102 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | | | | 5 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | | | | 43 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | | | | 118 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 200 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CEP85L CL E G H | 387119 | 21638 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 1 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | | | | 29 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 157 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 34 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 2 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 21 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | | | | 21 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | | | | 39 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | | | | 9 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 43 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | MACF1 CL E G H | 23499 | 13664 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 2 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | | | | 132 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | | | | 96 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | | | | 40 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | | | | 37 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | | | | 41 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | | | | 194 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:137902 | Isolated optic nerve hypoplasia/aplasia | | | | 194 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:165550 | OPTIC NERVE HYPOPLASIA, BILATERAL | | | | 194 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 180 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 18 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 213 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 221 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 34 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | | | | 22 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PTF1A CL E G H | 256297 | 23734 | ORPHA:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | | | | 22 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 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:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 7 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | | | | 113 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | | | | 357 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | | | | 80 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | | | | 12 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | | | | 21 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 10 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0008058 | HP:0008058 | Aplasia/Hypoplasia of the optic nerve | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | . | | | 10 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040283 - Occasional | | | 3179 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040284 - Very rare | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040284 - Very rare | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040283 - Occasional | | | 118 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 200 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CEP85L CL E G H | 387119 | 21638 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 1 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040282 - Frequent | | | 29 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | HP:0040283 - Occasional | | | 29 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | . | | | 44 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | HP:0040283 - Occasional | | | 12 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 172 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | . | | | 173 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 2 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | HP:0040284 - Very rare | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 21 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 21 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | IFT74 CL E G H | 80173 | 21424 | OMIM:619582 | JOUBERT SYNDROME 40; JBTS40 | | | | 3 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | . | | | 9 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 43 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | MACF1 CL E G H | 23499 | 13664 | ORPHA:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | | | | 2 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040283 - Occasional | | | 96 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | . | | | 41 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 41 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | . | | | 194 | | |
HP:0008058 | HP:0012521 | Optic nerve aplasia | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | | | | 194 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:137902 | Isolated optic nerve hypoplasia/aplasia | HP:0040280 - Obligate | | | 194 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:137902 | Isolated optic nerve hypoplasia/aplasia | HP:0040281 - Very frequent | | | 194 | | |
HP:0008058 | HP:0012521 | Optic nerve aplasia | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:165550 | OPTIC NERVE HYPOPLASIA, BILATERAL | | | | 194 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:165550 | OPTIC NERVE HYPOPLASIA, BILATERAL | | | | 194 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0008058 | HP:0000609 | Optic nerve 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 34 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 34 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | . | | | 22 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PTF1A CL E G H | 256297 | 23734 | ORPHA:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 7 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0008058 | HP:0000609 | Optic nerve 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:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | HP:0040284 - Very rare | | | 113 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | HP:0040283 - Occasional | | | 357 | | |
HP:0008058 | HP:0012521 | Optic nerve aplasia | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | . | | | 94 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0008058 | HP:0012521 | Optic nerve aplasia | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 33 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 24 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040282 - Frequent | | | 80 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0008058 | HP:0007766 | Optic disc hypoplasia | 1 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | HP:0040284 - Very rare | | | 12 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | HP:0040281 - Very frequent | | | 21 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 10 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | . | | | 177 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0008058 | HP:0000609 | Optic nerve hypoplasia | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 200 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 172 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 21 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 41 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 34 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 33 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040281 - Very frequent | | | 24 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0008058 | HP:0100842 | Septo-optic dysplasia | 2 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |