TaoMedAI/RareMedData huggingface dataset:
Gene: PXK
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PXK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TTC19
Phenotype: Limb fasciculations (HP:0007289)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Coma (HP:0001259)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Tremor (HP:0001337)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Dysmetria (HP:0001310)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Bradykinesia (HP:0002067)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Apraxia (HP:0002186)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Gait apraxia (HP:0010521)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Middle age onset (HP:0003596)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Paraparesis (HP:0002385)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Resting tremor (HP:0002322)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Incoordination (HP:0002311)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Diplopia (HP:0000651)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Hallucinations (HP:0000738)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Anxiety (HP:0000739)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Abnormal diminished volition (HP:0000745)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Depression (HP:0000716)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Psychosis (HP:0000709)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Cognitive regression (HP:0034332)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Central apnea (HP:0002871)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Dysphonia (HP:0001618)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: TTC19
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
Gene: MKS1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hand polydactyly (HP:0001161)
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: Hand polydactyly (HP:0001161)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKS1
Phenotype: Enlarged naris (HP:0009931)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Gait disturbance (HP:0001288)
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: Seizure (HP:0001250)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Ataxia (HP:0001251)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Ataxia (HP:0001251)
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: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Gene: MKS1
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
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: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: MKS1
Phenotype: Highly arched eyebrow (HP:0002553)
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: Highly arched eyebrow (HP:0002553)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: JOUBERT SYNDROME 28 (OMIM:617121)
Gene: MKS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MKS1
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MKS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: MKS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Gene: MKS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)