TaoMedAI/RareMedData huggingface dataset:
Gene: MAF
Phenotype: Long philtrum (HP:0000343)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Long philtrum (HP:0000343)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: High forehead (HP:0000348)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: High forehead (HP:0000348)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: MAF
Phenotype: Cerulean cataract (HP:0007976)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Pericarditis (HP:0001701)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Pericarditis (HP:0001701)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Megalocornea (HP:0000485)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Microcornea (HP:0000482)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: MAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Cataract (HP:0000518)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: MAF
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Developmental cataract (HP:0000519)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Ptosis (HP:0000508)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Visual impairment (HP:0000505)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Glaucoma (HP:0000501)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: AYME-GRIPP SYNDROME (OMIM:601088)
Gene: MAF
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Brachycephaly-deafness-cataract-intellectual disability syndrome; Aymé-Gripp syndrome; Fine-Lubinsky syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome (ORPHA:1272)
Gene: MAF
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Gene: MAF
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: MAG
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Spasticity (HP:0001257)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Titubation (HP:0030187)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Astigmatism (HP:0000483)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Astigmatism (HP:0000483)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Glaucoma (HP:0000501)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
Gene: MAG
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAG
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: SPG75; Autosomal recessive spastic paraplegia type 75 (ORPHA:459056)
Gene: MAK
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Visual field defect (HP:0001123)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MAK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Gene: MAK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAK
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAN2C1
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Microtia (HP:0008551)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Interhemispheric cyst (HP:0032327)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Macroglossia (HP:0000158)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Short columella (HP:0002000)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Broad thumb (HP:0011304)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: High forehead (HP:0000348)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)