TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6V0A2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Fragile nails (HP:0001808)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Myopia (HP:0000545)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: TSPAN12
Phenotype: Retinal exudate (HP:0001147)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Motor delay (HP:0001270)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Lymphedema (HP:0001004)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Macular telangiectasia (HP:0030503)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Blindness (HP:0000618)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Macular exudate (HP:0030496)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Macular edema (HP:0040049)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Microcephaly (HP:0000252)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Cataract (HP:0000518)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Visual impairment (HP:0000505)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Gene: TSPAN12
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: TSPAN12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TSPAN12
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PIGN
Phenotype: Tapered finger (HP:0001182)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Urinary bladder wall hypertrophy (HP:0008635)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Microtia (HP:0008551)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Seizure (HP:0001250)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Seizure (HP:0001250)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Hyperpigmented/hypopigmented macules (HP:0007441)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Unilateral renal dysplasia (HP:0008718)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Congenital megaureter (HP:0008676)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hydroureter (HP:0000072)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Proportionate shortening of all digits (HP:0006165)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Absent speech (HP:0001344)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Tremor (HP:0001337)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Tremor (HP:0001337)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Ureteral hypoplasia (HP:0032464)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Bladder trabeculation (HP:0032465)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Open mouth (HP:0000194)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Cleft palate (HP:0000175)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Wide mouth (HP:0000154)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Wide mouth (HP:0000154)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Anal stenosis (HP:0002025)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Anal stenosis (HP:0002025)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Anal atresia (HP:0002023)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Anal atresia (HP:0002023)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Deep longitudinal plantar crease (HP:0004681)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Dysphagia (HP:0002015)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
Gene: PIGN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fryns syndrome; Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome (ORPHA:2059)
Gene: PIGN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Abnormal renal collecting system morphology (HP:0004742)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)
Gene: PIGN
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: PIGN-CDG; Congenital disorder of glycosylation due to PIGN deficiency; Multiple congenital anomalies-hypotonia-seizures syndrome (ORPHA:280633)