TaoMedAI/RareMedData huggingface dataset:
Gene: DLL4
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL4
Phenotype: Absent hand (HP:0004050)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Strabismus (HP:0000486)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: DLL4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ADAMS-OLIVER SYNDROME 6 (OMIM:616589)
Gene: DLL4
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: ADAMS-OLIVER SYNDROME 6 (OMIM:616589)
Gene: DLL4
Phenotype: Cataract (HP:0000518)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: ADAMS-OLIVER SYNDROME 6 (OMIM:616589)
Gene: DLL4
Phenotype: Absent fingernail (HP:0001817)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL4
Phenotype: Talipes (HP:0001883)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: DLL4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: EGLN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 3 (OMIM:609820)
Gene: EGLN1
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 3 (OMIM:609820)
Gene: EGLN1
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 3 (OMIM:609820)
Gene: EGLN1
Phenotype: Increased red blood cell mass (HP:0001898)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 3 (OMIM:609820)
Gene: LZTFL1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Micropenis (HP:0000054)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Mesoaxial hand polydactyly (HP:0006159)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Renal cyst (HP:0000107)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Polyuria (HP:0000103)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Poor coordination (HP:0002370)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Polydipsia (HP:0001959)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hyposmia (HP:0004409)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Mesoaxial polydactyly (HP:0100260)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Anosmia (HP:0000458)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Visual impairment (HP:0000505)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: LZTFL1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Gene: LZTFL1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LZTFL1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UGT1A1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Gene: UGT1A1
Phenotype: Reduced tissue UDP-glucuronyl-transferase activity (HP:6000617)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE II (OMIM:606785)
Gene: UGT1A1
Phenotype: Seizure (HP:0001250)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: GILBERT SYNDROME (OMIM:143500)
Gene: UGT1A1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Kernicterus (HP:0001343)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Gene: UGT1A1
Phenotype: Kernicterus (HP:0001343)
Associated disease: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL (OMIM:237900)
Gene: UGT1A1
Phenotype: Kernicterus (HP:0001343)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE II (OMIM:606785)
Gene: UGT1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Gene: UGT1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL (OMIM:237900)
Gene: UGT1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GILBERT SYNDROME (OMIM:143500)