TaoMedAI/RareMedData huggingface dataset:
Gene: AKT3
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Gene: AKT3
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Hemianopia (HP:0012377)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: High forehead (HP:0000348)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: AKT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Telecanthus (HP:0000506)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: AKT3
Phenotype: Hemihypsarrhythmia (HP:0011215)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: NR2E3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Hemeralopia (HP:0012047)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Retinoschisis (HP:0030502)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Macular edema (HP:0040049)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Edema (HP:0000969)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Cystoid macular degeneration (HP:0008028)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Cataract (HP:0000518)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: ENHANCED S-CONE SYNDROME (OMIM:268100)
Gene: NR2E3
Phenotype: Tritanomaly (HP:0000552)
Associated disease: RETINITIS PIGMENTOSA 37 (OMIM:611131)
Gene: NR2E3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: NR2E3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2E3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNE3
Phenotype: Myotonia (HP:0002486)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRUGADA SYNDROME 6 (OMIM:613119)
Gene: KCNE3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Paralysis (HP:0003470)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Adrenocortical adenoma (HP:0008256)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Episodic hypokalemia (HP:0012726)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: ST segment elevation (HP:0012251)
Associated disease: BRUGADA SYNDROME 6 (OMIM:613119)
Gene: KCNE3
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: BRUGADA SYNDROME 6 (OMIM:613119)
Gene: KCNE3
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: KCNE3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: BRUGADA SYNDROME 6 (OMIM:613119)
Gene: KCNE3
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: KCNE3
Phenotype: Pain (HP:0012531)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SRA1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SRA1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HDAC6
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Metaphyseal cupping of metacarpals (HP:0006028)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Metaphyseal cupping of metacarpals (HP:0006028)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Metaphyseal cupping of proximal phalanges (HP:0006208)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Rhizomelia (HP:0008905)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Wide mouth (HP:0000154)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Abnormality of the calcaneus (HP:0008364)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Short palm (HP:0004279)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Short stature (HP:0004322)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Hypoplasia of the calcaneus (HP:0012789)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Short nose (HP:0003196)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Short nose (HP:0003196)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Thin ribs (HP:0000883)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Thin ribs (HP:0000883)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Gene: HDAC6
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Gene: HDAC6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)