TaoMedAI/RareMedData huggingface dataset:
Gene: PATL2
Phenotype: Abnormal oocyte morphology (HP:0020155)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PATL2
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE MATURATION DEFECT 4 (OMIM:617743)
Gene: PATL2
Phenotype: Abnormal meiosis (HP:0031515)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PATL2
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: OOCYTE MATURATION DEFECT 4 (OMIM:617743)
Gene: PATL2
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: LDHD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: LDHD
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: LDHD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: LDHD
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: LDHD
Phenotype: Elevated urine D-lactate level (HP:6000467)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: LDHD
Phenotype: Microcephaly (HP:0000252)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: LDHD
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: LDHD
Phenotype: Aniridia (HP:0000526)
Associated disease: D-LACTIC ACIDURIA WITH GOUT (OMIM:245450)
Gene: FCSK
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Inability to walk (HP:0002540)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Joint contracture (HP:0034392)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Premature birth (HP:0001622)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: FCSK
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Gene: ACSF3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Seizure (HP:0001250)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Impaired continence (HP:0031064)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Dystonia (HP:0001332)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Diarrhea (HP:0002014)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Vomiting (HP:0002013)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Vomiting (HP:0002013)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Migraine (HP:0002076)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Memory impairment (HP:0002354)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Dehydration (HP:0001944)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Dehydration (HP:0001944)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Acidosis (HP:0001941)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Dicarboxylic acidemia (HP:0040145)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: ACSF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: Combined malonic and methylmalonic aciduria; Combined malonic and methylmalonic acidemia; CMAMMA (ORPHA:289504)
Gene: ACSF3
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Gene: DZIP1L
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Cholestasis (HP:0001396)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Oliguria (HP:0100520)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Infantile onset (HP:0003593)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Slowly progressive (HP:0003677)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Polydipsia (HP:0001959)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Childhood onset (HP:0011463)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hypertension (HP:0000822)
Associated disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Gene: DZIP1L
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Jaundice (HP:0000952)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Ascites (HP:0001541)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Growth delay (HP:0001510)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Biliary hyperplasia (HP:0006560)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Cholangitis (HP:0030151)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: DZIP1L
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Gene: TTC21A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: TTC21A
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: TTC21A
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: TTC21A
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: TTC21A
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: TTC21A
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: TTC21A
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: TTC21A
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Gene: NLRP7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 1 (OMIM:231090)
Gene: NLRP7
Phenotype: History of stillbirth (HP:0032468)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 1 (OMIM:231090)
Gene: NLRP7
Phenotype: Hydatidiform mole (HP:0032192)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 1 (OMIM:231090)
Gene: NLRP7
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 1 (OMIM:231090)
Gene: NLRP7
Phenotype: Miscarriage (HP:0005268)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 1 (OMIM:231090)
Gene: GGN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 69 (OMIM:619826)
Gene: GGN
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 69 (OMIM:619826)
Gene: GGN
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 69 (OMIM:619826)
Gene: GGN
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 69 (OMIM:619826)
Gene: ALG14
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)
Gene: ALG14
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY (OMIM:619036)
Gene: ALG14
Phenotype: Poor head control (HP:0002421)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
Gene: ALG14
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Areflexia (HP:0001284)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG14
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES (OMIM:619031)