TaoMedAI/RareMedData huggingface dataset:
Gene: ACSL4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Strabismus (HP:0000486)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Myopia (HP:0000545)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: FAH
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Elevated urinary succinylacetone level (HP:6000598)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Paralytic ileus (HP:0002590)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hepatic failure (HP:0001399)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Cirrhosis (HP:0001394)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Elevated urinary 4-tyramine level (HP:6000775)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Diminished tissue fumarylacetoacetate hydrolase activity (HP:6000827)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Fumarylacetoacetase deficiency; Tyrosinemia type 1; Hepatorenal tyrosinemia; Tyrosinemia type I; FAH deficiency; Fumarylacetoacetate hydrolase deficiency (ORPHA:882)
Gene: FAH
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Fumarylacetoacetase deficiency; Tyrosinemia type 1; Hepatorenal tyrosinemia; Tyrosinemia type I; FAH deficiency; Fumarylacetoacetate hydrolase deficiency (ORPHA:882)
Gene: FAH
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Melena (HP:0002249)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Fever (HP:0001945)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Anemia (HP:0001903)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Episodic peripheral neuropathy (HP:0006949)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Rickets of the lower limbs (HP:0006463)
Associated disease: Fumarylacetoacetase deficiency; Tyrosinemia type 1; Hepatorenal tyrosinemia; Tyrosinemia type I; FAH deficiency; Fumarylacetoacetate hydrolase deficiency (ORPHA:882)
Gene: FAH
Phenotype: Ascites (HP:0001541)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Growth delay (HP:0001510)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Fumarylacetoacetase deficiency; Tyrosinemia type 1; Hepatorenal tyrosinemia; Tyrosinemia type I; FAH deficiency; Fumarylacetoacetate hydrolase deficiency (ORPHA:882)
Gene: FAH
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: Fumarylacetoacetase deficiency; Tyrosinemia type 1; Hepatorenal tyrosinemia; Tyrosinemia type I; FAH deficiency; Fumarylacetoacetate hydrolase deficiency (ORPHA:882)
Gene: FAH
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Splenomegaly (HP:0001744)
Associated disease: TYROSINEMIA, TYPE I (OMIM:276700)
Gene: FAH
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Fumarylacetoacetase deficiency; Tyrosinemia type 1; Hepatorenal tyrosinemia; Tyrosinemia type I; FAH deficiency; Fumarylacetoacetate hydrolase deficiency (ORPHA:882)
Gene: BPTF
Phenotype: Progressive conductive hearing impairment (HP:0008607)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Microtia (HP:0008551)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Seizure (HP:0001250)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Slender finger (HP:0001238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Neoplasm (HP:0002664)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: BPTF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: BPTF
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Long nasal bridge (HP:0033142)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Kaposi's sarcoma (HP:0100726)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: BPTF
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Esodeviation (HP:0020045)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: BPTF
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Small hand (HP:0200055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Hemihypotrophy of lower limb (HP:0200053)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Broad hallux (HP:0010055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Pineal cyst (HP:0012683)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Broad thumb (HP:0011304)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Synophrys (HP:0000664)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Hallucinations (HP:0000738)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Anxiety (HP:0000739)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Emotional lability (HP:0000712)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Patent ductus arteriosus after birth at term (HP:0011648)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Edema (HP:0000969)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: BPTF
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Otosclerosis (HP:0000362)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Short philtrum (HP:0000322)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Triangular face (HP:0000325)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Broad neck (HP:0000475)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Short neck (HP:0000470)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Overlapping toe (HP:0001845)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Sandal gap (HP:0001852)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Ptosis (HP:0000508)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Gene: BPTF
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: BPTF
Phenotype: Myopia (HP:0000545)
Associated disease: Del(17)(q24); 17q24.2 microdeletion syndrome (ORPHA:529962)
Gene: FANCB
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Absence of stomach bubble on fetal sonography (HP:0010963)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Complete duplication of thumb phalanx (HP:0009943)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Anotia (HP:0009892)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Spina bifida (HP:0002414)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Laryngeal atresia (HP:0008750)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Neonatal death (HP:0003811)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Urethral atresia (HP:0000068)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Micropenis (HP:0000054)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)