TaoMedAI/RareMedData huggingface dataset:
Gene: FUS
Phenotype: Depression (HP:0000716)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Upper-limb joint contracture (HP:0100360)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Microcephaly (HP:0000252)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Ptosis (HP:0000508)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUT8
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Hirsutism (HP:0001007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Short nose (HP:0003196)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Joint contracture (HP:0034392)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Retrognathia (HP:0000278)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Broad forehead (HP:0000337)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: High forehead (HP:0000348)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Glaucoma (HP:0000501)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Buphthalmos (HP:0000557)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: FUT8
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 (OMIM:618005)
Gene: KDSR
Phenotype: Tapered finger (HP:0001182)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Gene: KDSR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Gene: KDSR
Phenotype: Congenital onset (HP:0003577)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Gene: KDSR
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Gene: KDSR
Phenotype: Skin plaque (HP:0200035)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: KDSR
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: KDSR
Phenotype: Erythema (HP:0010783)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Gene: KDSR
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Short stature (HP:0004322)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Macule (HP:0012733)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Gene: KDSR
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Skin rash (HP:0000988)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia; Progressive symmetric erythrokeratodermia, Gottron type; Darier-Gottron disease (ORPHA:316)
Gene: KDSR
Phenotype: Dry skin (HP:0000958)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 (OMIM:617526)
Gene: KDSR
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Alopecia (HP:0001596)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Protruding ear (HP:0000411)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Cataract (HP:0000518)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Weight loss (HP:0001824)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: KDSR
Phenotype: Glaucoma (HP:0000501)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: FYB1
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Decreased mean platelet volume (HP:0005537)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Megakaryocytopenia (HP:0005548)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Purpura (HP:0000979)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Petechiae (HP:0000967)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Epistaxis (HP:0000421)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FYB1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 3 (OMIM:273900)
Gene: FZD2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Epispadias (HP:0000039)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Micropenis (HP:0000054)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hypospadias (HP:0000047)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Coxa valga (HP:0002673)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)