TaoMedAI/RareMedData huggingface dataset:
Gene: CAPN3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Back pain (HP:0003418)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Middle age onset (HP:0003596)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Late onset (HP:0003584)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Muscle eosinophilia (HP:0032019)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Facial palsy (HP:0010628)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Scapular winging (HP:0003691)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Myositis (HP:0100614)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Clumsiness (HP:0002312)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Scapular muscle atrophy (HP:0009060)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Myopathy (HP:0003198)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPNS1
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Pulmonary capillary hemangiomatosis (HP:0005954)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Apnea (HP:0002104)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Atrial flutter (HP:0004749)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Alveolar septal thickening (HP:0033376)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Cyanosis (HP:0000961)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Premature birth (HP:0001622)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAPNS1
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Gene: CAST
Phenotype: Cheilitis (HP:0100825)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Knuckle pad (HP:0032541)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Infantile onset (HP:0003593)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Acantholysis (HP:0100792)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Fragile skin (HP:0001030)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Pruritus (HP:0000989)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Dry skin (HP:0000958)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Scaling skin (HP:0040189)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Leukonychia (HP:0001820)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CAST
Phenotype: Onycholysis (HP:0001806)
Associated disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Gene: CARS1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Chordee (HP:0000041)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Dystonia (HP:0001332)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Talipes valgus (HP:0004684)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Fine hair (HP:0002213)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Brittle hair (HP:0002299)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Poor coordination (HP:0002370)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)