TaoMedAI/RareMedData huggingface dataset:
Gene: KY
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Pain (HP:0012531)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: NAT8L
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Seizure (HP:0001250)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Broad-based gait (HP:0002136)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Unsteady gait (HP:0002317)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Decreased body weight (HP:0004325)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Short stature (HP:0004322)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Short attention span (HP:0000736)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Self-mutilation (HP:0000742)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Childhood onset (HP:0011463)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Microcephaly (HP:0000252)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: NAT8L
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
Gene: SLC6A19
Phenotype: Hypertonia (HP:0001276)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Seizure (HP:0001250)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Seizure (HP:0001250)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Hypotonia (HP:0001252)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Ataxia (HP:0001251)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Abnormal urinary color (HP:0012086)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Tremor (HP:0001337)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Migraine (HP:0002076)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Elevated urinary indican level (HP:6000130)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A19
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Elevated urinary indoleacetic acid level (HP:6000332)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Neutral hyperaminoaciduria (HP:0008353)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Neutral hyperaminoaciduria (HP:0008353)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A19
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Nystagmus (HP:0000639)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Photophobia (HP:0000613)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Short stature (HP:0004322)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Short stature (HP:0004322)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A19
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Hallucinations (HP:0000738)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Anxiety (HP:0000739)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Emotional lability (HP:0000712)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Emotional lability (HP:0000712)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Psychosis (HP:0000709)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Psychosis (HP:0000709)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Childhood onset (HP:0011463)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A19
Phenotype: Prolinuria (HP:0003137)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A19
Phenotype: Hydroxyprolinemia (HP:0003260)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A19
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Skin rash (HP:0000988)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Gingivitis (HP:0000230)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Glossitis (HP:0000206)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Glossitis (HP:0000206)
Associated disease: HARTNUP DISORDER (OMIM:234500)
Gene: SLC6A19
Phenotype: Strabismus (HP:0000486)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SLC6A19
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: STING1
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Pustular rash (HP:0033605)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Malar rash (HP:0025300)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Tachypnea (HP:0002789)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Nailfold capillary tortuosity (HP:0033250)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Paratracheal lymphadenopathy (HP:0033280)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Infantile onset (HP:0003593)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Myositis (HP:0100614)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Pustule (HP:0200039)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Erythema (HP:0010783)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Periungual erythema (HP:0033425)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Nasal septum perforation (HP:0033434)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Anemia (HP:0001903)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Skin rash (HP:0000988)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Sparse hair (HP:0008070)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Arthralgia (HP:0002829)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: STING1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Gene: ARSI
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Chronic sensorineural polyneuropathy (HP:0001301)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Colpocephaly (HP:0030048)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: ARSI
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Gene: RSPO2
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Microtia (HP:0008551)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Absent nipple (HP:0002561)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Bowed humerus (HP:0003865)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Micropenis (HP:0000054)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Glossoptosis (HP:0000162)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RSPO2
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: RSPO2
Phenotype: Bilateral lung agenesis (HP:0005944)
Associated disease: TETRAAMELIA SYNDROME 2 (OMIM:618021)
Gene: RSPO2
Phenotype: Prominent glabella (HP:0002057)
Associated disease: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (OMIM:618022)
Gene: RSPO2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RSPO2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)