TaoMedAI/RareMedData huggingface dataset:
Gene: CHD7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
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: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Gene: CHD7
Phenotype: Dandy-Walker malformation (HP:0001305)
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: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Absent radius (HP:0003974)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Overriding aorta (HP:0002623)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Narrow mouth (HP:0000160)
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 palate (HP:0000175)
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 palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Cleft palate (HP:0000175)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Gene: CHD7
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Cleft lip (HP:0410030)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Gene: CHD7
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Hydronephrosis (HP:0000126)
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: Hydronephrosis (HP:0000126)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Renal agenesis (HP:0000104)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Anal stenosis (HP:0002025)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Anal atresia (HP:0002023)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Gastroesophageal reflux (HP:0002020)
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: Esophageal atresia (HP:0002032)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Dysphagia (HP:0002015)
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: Dysphagia (HP:0002015)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Respiratory insufficiency (HP:0002093)
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: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Bifid femur (HP:0010443)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Bifid femur (HP:0010443)
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: Polydactyly (HP:0010442)
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: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Absent tibia (HP:0009556)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Aplasia/Hypoplasia of the thymus (HP:0010515)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Abnormal soft palate morphology (HP:0100736)
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: Hypoplasia of the zygomatic bone (HP:0010669)
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: Attention deficit hyperactivity disorder (HP:0007018)
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: Feeding difficulties (HP:0011968)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Facial palsy (HP:0010628)
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 palsy (HP:0010628)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Abnormal palmar dermatoglyphics (HP:0001018)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Dimple chin (HP:0010751)
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 thumb (HP:0009778)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
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: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD7
Phenotype: Cranial nerve paralysis (HP:0006824)
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: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Lacrimation abnormality (HP:0000632)
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: Optic atrophy (HP:0000648)
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 leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Iris coloboma (HP:0000612)
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: Iris coloboma (HP:0000612)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Eyelid coloboma (HP:0000625)
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: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Hypoplasia of the semicircular canal (HP:0011382)
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: Aplasia of the semicircular canal (HP:0011381)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Delayed eruption of teeth (HP:0000684)
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 stature (HP:0004322)
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: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Abnormality of bone mineral density (HP:0004348)
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: Abnormal rib morphology (HP:0000772)
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: Abnormal rib morphology (HP:0000772)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Self-mutilation (HP:0000742)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Autism (HP:0000717)
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: Compulsive behaviors (HP:0000722)
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: Unilateral microphthalmos (HP:0011480)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Fetal onset (HP:0011461)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Dysplastic tricuspid valve (HP:0030732)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CHD7
Phenotype: Parathyroid hypoplasia (HP:0000860)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Abnormality of the adrenal glands (HP:0000834)
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)