TaoMedAI/RareMedData huggingface dataset:
Gene: CHD7
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Epicanthus (HP:0000286)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Narrow face (HP:0000275)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Malar flattening (HP:0000272)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Omphalocele (HP:0001539)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Omphalocele (HP:0001539)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Cupped ear (HP:0000378)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Overfolded helix (HP:0000396)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Lop ear (HP:0000394)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Low-set ears (HP:0000369)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD7
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Micrognathia (HP:0000347)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Square face (HP:0000321)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Gene: CHD7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Strabismus (HP:0000486)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Gene: CHD7
Phenotype: Anosmia (HP:0000458)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Anosmia (HP:0000458)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Webbed neck (HP:0000465)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Webbed neck (HP:0000465)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Choanal atresia (HP:0000453)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Choanal atresia (HP:0000453)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Cataract (HP:0000518)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Anophthalmia (HP:0000528)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Anophthalmia (HP:0000528)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD7
Phenotype: Ptosis (HP:0000508)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Ptosis (HP:0000508)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Coloboma (HP:0000589)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Coloboma (HP:0000589)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Talipes (HP:0001883)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: CHD7
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FLVCR2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Seizure (HP:0001250)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Pterygium (HP:0001059)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Akinesia (HP:0002304)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)