TaoMedAI/RareMedData huggingface dataset:
Gene: MKS1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Long face (HP:0000276)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Long face (HP:0000276)
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: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Episodic tachypnea (HP:0002876)
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: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Omphalocele (HP:0001539)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Orofacial cleft (HP:0000202)
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: Orofacial cleft (HP:0000202)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Situs inversus totalis (HP:0001696)
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: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Low-set ears (HP:0000369)
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: Low-set ears (HP:0000369)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Broad forehead (HP:0000337)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Broad forehead (HP:0000337)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Breech presentation (HP:0001623)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Strabismus (HP:0000486)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Anteverted nares (HP:0000463)
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: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Short neck (HP:0000470)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Webbed neck (HP:0000465)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Asplenia (HP:0001746)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Prominent nasal bridge (HP:0000426)
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: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Foot polydactyly (HP:0001829)
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: Foot polydactyly (HP:0001829)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Ptosis (HP:0000508)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Ptosis (HP:0000508)
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: Ptosis (HP:0000508)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Visual loss (HP:0000572)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Talipes (HP:0001883)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FOCAD
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Sepsis (HP:0100806)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Blue nevus (HP:0100814)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Peritonitis (HP:0002586)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hypotonia (HP:0001252)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hepatic failure (HP:0001399)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hypospadias (HP:0000047)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)
Gene: FOCAD
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: LIVER DISEASE, SEVERE CONGENITAL (OMIM:619991)