TaoMedAI/RareMedData huggingface dataset:
Gene: WLS
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Infantile onset (HP:0003593)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Congenital onset (HP:0003577)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Developmental regression (HP:0002376)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hypoplasia of the phalanges of the toes (HP:0010746)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Short stature (HP:0004322)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Poor appetite (HP:0004396)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Median pseudocleft lip (HP:0034185)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Sacral dimple (HP:0000960)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Microcephaly (HP:0000252)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: High palate (HP:0000218)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Cupped ear (HP:0000378)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Sloping forehead (HP:0000340)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: High forehead (HP:0000348)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Micrognathia (HP:0000347)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Short philtrum (HP:0000322)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Intraventricular arachnoid cyst (HP:0012488)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Wide nose (HP:0000445)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: GRHL2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 (OMIM:618031)
Gene: GRHL2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 (OMIM:618031)
Gene: GRHL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 28 (OMIM:608641)
Gene: GRHL2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 (OMIM:618031)
Gene: GRHL2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Dysphagia (HP:0002015)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Asthma (HP:0002099)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 28 (OMIM:608641)
Gene: GRHL2
Phenotype: Ocular pain (HP:0200026)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Very low visual acuity (HP:0032122)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Increased corneal curvature (HP:0100692)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Photophobia (HP:0000613)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Blurred vision (HP:0000622)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Short stature (HP:0004322)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 28 (OMIM:608641)
Gene: GRHL2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Anonychia (HP:0001798)
Associated disease: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
Gene: GRHL2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: GRHL2
Phenotype: Esotropia (HP:0000565)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: POF1B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: Female infertility (HP:0008222)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: Female-limited expression (HP:0034344)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: POF1B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Gene: SVEP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SVEP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: IFT56
Phenotype: Fetal distress (HP:0025116)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Syndactyly (HP:0001159)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Bronchial wall thickening (HP:0033542)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Seizure (HP:0001250)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hypotonia (HP:0001252)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Spasticity (HP:0001257)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Generalized edema (HP:0007430)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Tracheal bronchus (HP:0033614)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Neonatal death (HP:0003811)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Cholestasis (HP:0001396)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Cirrhosis (HP:0001394)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Right aortic arch (HP:0012020)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Portal hypertension (HP:0001409)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Dark urine (HP:0040319)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Frontal bossing (HP:0002007)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Asthma (HP:0002099)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Esophageal varix (HP:0002040)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Primum atrial septal defect (HP:0010445)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Polydactyly (HP:0010442)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Intrahepatic bile duct dilatation (HP:0033149)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Infantile onset (HP:0003593)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Congenital onset (HP:0003577)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Knee dislocation (HP:0004976)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Cor triatriatum (HP:0010774)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Broad first metatarsal (HP:0010068)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Broad thumb (HP:0011304)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Short stature (HP:0004322)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Unbalanced atrioventricular canal defect (HP:0011579)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Common atrium (HP:0011565)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Abdominal distention (HP:0003270)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)
Gene: IFT56
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME (OMIM:619534)