TaoMedAI/RareMedData huggingface dataset:
Gene: ZNF407
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Hip subluxation (HP:0030043)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Growth delay (HP:0001510)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Absent earlobe (HP:0000387)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Strabismus (HP:0000486)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Protruding ear (HP:0000411)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: ZNF407
Phenotype: Overlapping toe (HP:0001845)
Associated disease: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES (OMIM:619557)
Gene: SLC39A4
Phenotype: Cheilitis (HP:0100825)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Lethargy (HP:0001254)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Ataxia (HP:0001251)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Tremor (HP:0001337)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Hypogonadism (HP:0000135)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Diarrhea (HP:0002014)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Perioral erythema (HP:0033194)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Perianal erythema (HP:0033195)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Anorexia (HP:0002039)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Infantile onset (HP:0003593)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Ridged fingernail (HP:0008402)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Pustule (HP:0200039)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Erythema (HP:0010783)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Decreased serum zinc (HP:0031831)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Photophobia (HP:0000613)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Short stature (HP:0004322)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Short stature (HP:0004322)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Poor appetite (HP:0004396)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Poor appetite (HP:0004396)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Irritability (HP:0000737)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Emotional lability (HP:0000712)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Emotional lability (HP:0000712)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Childhood onset (HP:0011463)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Dry skin (HP:0000958)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Dry skin (HP:0000958)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Alopecia (HP:0001596)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Hypogeusia (HP:0000224)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Glossitis (HP:0000206)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Blepharitis (HP:0000498)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Weight loss (HP:0001824)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Ridged nail (HP:0001807)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Paronychia (HP:0001818)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: SLC39A4
Phenotype: Paronychia (HP:0001818)
Associated disease: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (OMIM:201100)
Gene: SLC39A4
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Acrodermatitis enteropathica; Inherited zinc deficiency; AEZ; Acrodermatitis enteropathica, zinc deficiency type (ORPHA:37)
Gene: CHD7
Phenotype: Brachydactyly (HP:0001156)
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: Hand polydactyly (HP:0001161)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
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: Microtia (HP:0008551)
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: Microtia (HP:0008551)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Sporadic (HP:0003745)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Aqueductal stenosis (HP:0002410)
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 cranial nerve morphology (HP:0001291)
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: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Tracheoesophageal fistula (HP:0002575)
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: Tracheoesophageal fistula (HP:0002575)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
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 immune system physiology (HP:0010978)
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: Highly arched eyebrow (HP:0002553)
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: Renal hypoplasia (HP:0000089)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Horseshoe kidney (HP:0000085)
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: Horseshoe kidney (HP:0000085)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Labial hypoplasia (HP:0000066)
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: Vesicoureteral reflux (HP:0000076)
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: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Gene: CHD7
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
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: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Micropenis (HP:0000054)
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: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Micropenis (HP:0000054)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Right aortic arch (HP:0012020)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Bifid scrotum (HP:0000048)
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: Holoprosencephaly (HP:0001360)
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: Holoprosencephaly (HP:0001360)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Cryptorchidism (HP:0000028)
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: Cryptorchidism (HP:0000028)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Gene: CHD7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: CHD7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: CHD7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: CHD7
Phenotype: Postnatal growth retardation (HP:0008897)
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: Postnatal growth retardation (HP:0008897)
Associated disease: CHARGE SYNDROME (OMIM:214800)
Gene: CHD7
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: CHD7
Phenotype: Feeding difficulties in infancy (HP:0008872)
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 body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)