TaoMedAI/RareMedData huggingface dataset:
Gene: ALMS1
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Micropenis (HP:0000054)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Urinary retention (HP:0000016)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Abnormal coronary artery physiology (HP:0025496)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Detrusor sphincter dyssynergia (HP:0025488)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Nephritis (HP:0000123)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Multinodular goiter (HP:0005987)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Myalgia (HP:0003326)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Asthma (HP:0002099)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Dysuria (HP:0100518)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Polydactyly (HP:0010442)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Precocious puberty in females (HP:0010465)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Fine hair (HP:0002213)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Chronic active hepatitis (HP:0200120)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Frontal balding (HP:0002292)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Puberty and gonadal disorders (HP:0008373)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hirsutism (HP:0001007)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Hypoplasia of the Leydig cells (HP:0010790)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Incoordination (HP:0002311)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Abnormal liver physiology (HP:0031865)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Blindness (HP:0000618)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Blindness (HP:0000618)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Photophobia (HP:0000613)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Photophobia (HP:0000613)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Short stature (HP:0004322)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Short stature (HP:0004322)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Recurrent cystitis (HP:0012786)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Hyperostosis frontalis interna (HP:0004438)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hyperostosis frontalis interna (HP:0004438)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Testicular fibrosis (HP:0012860)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Drusen (HP:0011510)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Primary hypothyroidism (HP:0000832)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hypertension (HP:0000822)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Hypertension (HP:0000822)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Short finger (HP:0009381)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Alopecia (HP:0001596)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Kyphosis (HP:0002808)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Gingivitis (HP:0000230)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Gingivitis (HP:0000230)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Obesity (HP:0001513)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Obesity (HP:0001513)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Otitis media (HP:0000388)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Otitis media (HP:0000388)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Round face (HP:0000311)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Pes planus (HP:0001763)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Pes planus (HP:0001763)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)