TaoMedAI/RareMedData huggingface dataset:
Gene: TUBB
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Thickened skin (HP:0001072)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Short stature (HP:0004322)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Edema (HP:0000969)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Epicanthus (HP:0000286)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Epicanthus (HP:0000286)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Microcephaly (HP:0000252)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Microcephaly (HP:0000252)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: High palate (HP:0000218)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Flat face (HP:0012368)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Overfolded helix (HP:0000396)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Low-set ears (HP:0000369)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Long philtrum (HP:0000343)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Long philtrum (HP:0000343)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Micrognathia (HP:0000347)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Microcornea (HP:0000482)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Microcornea (HP:0000482)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Retinopathy (HP:0000488)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Short neck (HP:0000470)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Localized neuroblastoma (HP:0006768)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Localized neuroblastoma (HP:0006768)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: LGI3
Phenotype: Myokymia (HP:0002411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Ataxia (HP:0001251)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Hypokinesia (HP:0002375)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Kyphosis (HP:0002808)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: LGI3
Phenotype: Facial myokymia (HP:0000317)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Gene: C9orf72
Phenotype: Dyscalculia (HP:0002442)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Extrapyramidal dyskinesia (HP:0007308)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Dysarthria (HP:0001260)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Parkinsonism (HP:0001300)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Apraxia (HP:0002186)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Gliosis (HP:0002171)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Tetraparesis (HP:0002273)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Adult onset (HP:0003581)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Paraparesis (HP:0002385)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Hallucinations (HP:0000738)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Delusion (HP:0000746)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Apathy (HP:0000741)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Depression (HP:0000716)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Dementia (HP:0000726)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: C9orf72
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Gene: ANKS6
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Cholestasis (HP:0001396)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: ANKS6
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: NEPHRONOPHTHISIS 16 (OMIM:615382)
Gene: VMA21
Phenotype: Myotonia (HP:0002486)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Difficulty running (HP:0009046)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: VMA21
Phenotype: Skeletal muscle autophagosome accumulation (HP:0025717)
Associated disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Gene: ANO5
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: EMG: myotonic runs (HP:0003730)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Gene: ANO5
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Gene: ANO5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Gene: ANO5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Waddling gait (HP:0002515)
Associated disease: MMD3; Distal anoctaminopathy; Miyoshi muscular dystrophy type 3 (ORPHA:399096)