TaoMedAI/RareMedData huggingface dataset:
Gene: HS6ST1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: HS6ST1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Genu valgum (HP:0002857)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: HS6ST1
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Gene: HS6ST1
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: HS6ST1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: RECQL4
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Zonular cataract (HP:0010920)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Underfolded helix (HP:0008577)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Calcinosis (HP:0003761)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Motor delay (HP:0001270)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Seizure (HP:0001250)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Joint dislocation (HP:0001373)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Midface capillary hemangioma (HP:0007452)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Abnormality of the radial head (HP:0003995)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Lymphoma (HP:0002665)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Lymphoma (HP:0002665)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Absent radius (HP:0003974)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Oligodactyly (HP:0012165)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Hypogonadism (HP:0000135)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: High, narrow palate (HP:0002705)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Anal atresia (HP:0002023)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Anal atresia (HP:0002023)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Diarrhea (HP:0002014)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Diarrhea (HP:0002014)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Diarrhea (HP:0002014)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Vomiting (HP:0002013)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Radial deviation of the hand (HP:0009486)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Congenital onset (HP:0003577)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Perineal fistula (HP:0004871)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Finger symphalangism (HP:0009700)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Severe short stature (HP:0003510)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Poikiloderma (HP:0001029)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Facial erythema (HP:0001041)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Telangiectasia (HP:0001009)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Abnormal trabecular bone morphology (HP:0100671)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Forearm undergrowth (HP:0009821)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Mottled pigmentation (HP:0001070)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Porokeratosis (HP:0200044)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)