TaoMedAI/RareMedData huggingface dataset:
Gene: DUSP6
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: DUSP6
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
Gene: DUSP6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
Gene: DUSP6
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
Gene: DUSP6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: DUSP6
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUSP6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: DUT
Phenotype: Nevus (HP:0003764)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Infantile onset (HP:0003593)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Anti-islet antigen-2 antibody positivity (HP:0034063)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: T-cell acute lymphoblastic leukemias (HP:0006727)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DUT
Phenotype: Pancytopenia (HP:0001876)
Associated disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Gene: DVL1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Duplication of the distal phalanx of hand (HP:0009883)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Seizure (HP:0001250)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Partial duplication of the phalanx of hand (HP:0009999)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Renal duplication (HP:0000075)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Epispadias (HP:0000039)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Micropenis (HP:0000054)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Micropenis (HP:0000054)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Narrow palate (HP:0000189)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Macroglossia (HP:0000158)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Wide mouth (HP:0000154)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Bifid distal phalanx of the thumb (HP:0009611)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)