TaoMedAI/RareMedData huggingface dataset:
Gene: MLYCD
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Microcephaly (HP:0000252)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Growth delay (HP:0001510)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: CRB1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Macular coloboma (HP:0001116)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Gene: CRB1
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Eye poking (HP:0001483)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Gene: CRB1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: CRB1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Nummular pigmentation of the fundus (HP:0030505)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: CRB1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: CRB1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Gene: CRB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Gene: CRB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Paravenous chorioretinal atrophy (HP:0007903)
Associated disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Gene: CRB1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: CRB1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Cataract (HP:0000518)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: CRB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Exotropia (HP:0000577)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Keratoconus (HP:0000563)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: CRB1
Phenotype: Esotropia (HP:0000565)
Associated disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Gene: CRB1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY (OMIM:172870)
Gene: CRB1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: LEBER CONGENITAL AMAUROSIS 8 (OMIM:613835)
Gene: CRB1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRB1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 12 (OMIM:600105)
Gene: CRB1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRB1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRB1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TDRD7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 36 (OMIM:613887)
Gene: TDRD7
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACT 36 (OMIM:613887)
Gene: GRIP1
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Simple ear (HP:0020206)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Microtia (HP:0008551)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Stillbirth (HP:0003826)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Small scrotum (HP:0000046)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Small scrotum (HP:0000046)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Tracheal atresia (HP:0100682)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Blindness (HP:0000618)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Cleft ala nasi (HP:0003191)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Sonographic non-visualized fetal bladder (HP:0034217)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: High palate (HP:0000218)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Ascites (HP:0001541)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)