TaoMedAI/RareMedData huggingface dataset:
Gene: NPHP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Abnormal renal medulla morphology (HP:0100957)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Thickened superior cerebellar peduncle (HP:0002404)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Seizure (HP:0001250)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Ataxia (HP:0001251)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Tremor (HP:0001337)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Nephropathy (HP:0000112)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Polyuria (HP:0000103)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Polyuria (HP:0000103)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Encephalocele (HP:0002084)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Apnea (HP:0002104)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Postural instability (HP:0002172)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Impaired renal concentrating ability (HP:0004727)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Thickening of the tubular basement membrane (HP:0020132)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Tubular basement membrane disintegration (HP:0005583)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Polydipsia (HP:0001959)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Polydipsia (HP:0001959)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Anemia (HP:0001903)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Anemia (HP:0001903)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 4 (OMIM:609583)
Gene: NPHP1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Hypertension (HP:0000822)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Gene: NPHP1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Long face (HP:0000276)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Growth delay (HP:0001510)
Associated disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Gene: NPHP1
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Strabismus (HP:0000486)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: NPHP1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: NPHP1
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)