TaoMedAI/RareMedData huggingface dataset:
Gene: NMNAT1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: NMNAT1
Phenotype: Color vision defect (HP:0000551)
Associated disease: LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)
Gene: NMNAT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NMNAT1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: NMNAT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: NMNAT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NMNAT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)
Gene: NMNAT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Gene: NMNAT1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: P2RY12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: P2RY12
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: P2RY12
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: P2RY12
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: P2RY12
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: P2RY12
Phenotype: Ecchymosis (HP:0031364)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: P2RY12
Phenotype: Epistaxis (HP:0000421)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: P2RY12
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Gene: ELOVL1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Motor delay (HP:0001270)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Ataxia (HP:0001251)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Spasticity (HP:0001257)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Tremor (HP:0001337)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Dysmetria (HP:0001310)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Babinski sign (HP:0003487)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Parakeratosis (HP:0001036)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Nystagmus (HP:0000639)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Photophobia (HP:0000613)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Dry skin (HP:0000958)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Xerostomia (HP:0000217)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES (OMIM:618527)
Gene: ELOVL1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLC2
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Proximal hyperreflexia (HP:0007054)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Proximal hyperreflexia (HP:0007054)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: KLC2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Gene: KLC2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Gene: PORCN
Phenotype: Split hand (HP:0001171)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Split hand (HP:0001171)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Spina bifida (HP:0002414)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Linear hyperpigmentation (HP:0007546)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Focal dermal aplasia/hypoplasia (HP:0007510)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Cleft palate (HP:0000175)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Giant cell tumor of bone (HP:0011847)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Congenital onset (HP:0003577)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hernia (HP:0100790)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Brittle hair (HP:0002299)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Telangiectasia (HP:0001009)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Abnormal palmar dermatoglyphics (HP:0001018)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Skin nodule (HP:0200036)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Open bite (HP:0010807)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)
Gene: PORCN
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Gene: PORCN
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Goltz-Gorlin syndrome; Goltz syndrome; Focal dermal hypoplasia (ORPHA:2092)