TaoMedAI/RareMedData huggingface dataset:
Gene: MKS1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Olfactory lobe agenesis (HP:0001341)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Absent speech (HP:0001344)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Tremor (HP:0001337)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Wide mouth (HP:0000154)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Large placenta (HP:0006267)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Anal atresia (HP:0002023)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Elevated amniotic fluid alpha-fetoprotein (HP:0004639)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Encephalocele (HP:0002084)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Apnea (HP:0002104)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Anencephaly (HP:0002323)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Natal tooth (HP:0000695)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Cystic renal dysplasia (HP:0000800)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Fetal onset (HP:0011461)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: MKS1
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)