TaoMedAI/RareMedData huggingface dataset:
Gene: CUL7
Phenotype: Short stature (HP:0004322)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Short ribs (HP:0000773)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Slender long bone (HP:0003100)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Slender long bone (HP:0003100)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Thin ribs (HP:0000883)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Short 5th finger (HP:0009237)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Short thorax (HP:0010306)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Short thorax (HP:0010306)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Malar flattening (HP:0000272)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Kyphosis (HP:0002808)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Small for gestational age (HP:0001518)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Growth delay (HP:0001510)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Long philtrum (HP:0000343)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Long philtrum (HP:0000343)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Broad forehead (HP:0000337)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Micromelia (HP:0002983)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Triangular face (HP:0000325)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Triangular face (HP:0000325)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Pointed chin (HP:0000307)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Pointed chin (HP:0000307)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Short neck (HP:0000470)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Short neck (HP:0000470)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Pes planus (HP:0001763)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Bulbous nose (HP:0000414)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Protruding ear (HP:0000411)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RB1CC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: RB1CC1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: RB1CC1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: DNAJC6
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Anarthria (HP:0002425)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Seizure (HP:0001250)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Seizure (HP:0001250)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Spasticity (HP:0001257)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Inability to walk (HP:0002540)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Dystonia (HP:0001332)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Myoclonus (HP:0001336)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Glabellar reflex (HP:0030904)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Rigidity (HP:0002063)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Postural instability (HP:0002172)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Shuffling gait (HP:0002362)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Resting tremor (HP:0002322)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Slowed slurred speech (HP:0007164)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Akinesia (HP:0002304)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Fatigue (HP:0012378)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Hypomimic face (HP:0000338)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Weak voice (HP:0001621)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: DNAJC6
Phenotype: Pes cavus (HP:0001761)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: DNAJC6
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
Gene: DNAJC6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: GINS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Absent natural killer cells (HP:0040219)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Dry skin (HP:0000958)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Gene: GINS1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 55 (OMIM:617827)