TaoMedAI/RareMedData huggingface dataset:
Gene: ADAMTS2
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Aphasia (HP:0002381)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Hirsutism (HP:0001007)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Abnormality of subcutaneous fat tissue (HP:0001001)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Esophagitis (HP:0100633)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Scarring (HP:0100699)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Mutism (HP:0002300)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Hypodontia (HP:0000668)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Thin skin (HP:0000963)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Osteopenia (HP:0000938)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Redundant skin (HP:0001582)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Gingival hyperkeratosis (HP:0000222)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Micrognathia (HP:0000347)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Premature birth (HP:0001622)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Recurrent mandibular subluxations (HP:0005332)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTS2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Telecanthus (HP:0000506)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Short toe (HP:0001831)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: ADAMTS2
Phenotype: Myopia (HP:0000545)
Associated disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Gene: PMPCB
Phenotype: Poor head control (HP:0002421)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Ataxia (HP:0001251)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Inability to walk (HP:0002540)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Dystonia (HP:0001332)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Absent speech (HP:0001344)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Dysmetria (HP:0001310)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Progressive (HP:0003676)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: PMPCB
Phenotype: Visual loss (HP:0000572)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (OMIM:617954)
Gene: LITAF
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Ataxia (HP:0001251)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Paresthesia (HP:0003401)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: LITAF
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Gene: SPTLC2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Impaired ability to dress oneself (HP:0031060)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Hand paresthesia (HP:0033660)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Hypohidrosis or hyperhidrosis (HP:0007550)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Steppage gait (HP:0003376)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Penetrating foot ulcers (HP:0001026)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Trophic changes related to pain (HP:0010834)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Limb pain (HP:0009763)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Cough (HP:0012735)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: EMG: slow motor conduction (HP:0100287)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Anhidrosis (HP:0000970)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: SPTLC2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC2
Phenotype: Dysesthesia (HP:0012534)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
Gene: GDF15
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPEREMESIS GRAVIDARUM, SUSCEPTIBILITY TO (OMIM:620730)