{"Name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","DiseaseID__c":"GARD:0012665","id":12665,"encodedName":"classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","Xref_IDs__c":"124221007; 717261006; C131087; C4273964; C535979; MEDGEN:903755; MONDO:0008728; OMIM:201910; ORPHA:90794","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":6,"Description_Source__c":"MONDO:0008728","Disease_Description__c":"A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia.","GARD_Name__c":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","GARD_Synonym__c":"21-ohd; classic 21-ohd cah","Curated_Disease_Description_Source__c":"GARD:0012665","Curated_Disease_Description__c":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) affects the adrenal glands which are responsible for producing specific hormones. There are two types of classic 21-OHD CAH, the salt-wasting form and the simple-virilizing form. Symptoms include abnormal development of the external sex organs in females (ambiguous genitalia), early puberty, and short stature. The salt-wasting form also may include the inability to retain salt and water. This can lead to dehydration, low blood pressure, and a life-threatening adrenal crisis. Classic 21-OHD CAH is caused by a genetic pathogenic variant in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, blood hormone testing and may be confirmed by the results of genetic testing. Classic 21-OHD CAH can be diagnosed through a newborn screen.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:90794","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008728","ORPHANET_ID__c":"ORPHA:90794","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa","Spanish_Description_Source__c":"ORPHA:90794","Spanish_Description__c":"Es una forma de hiperplasia suprarrenal congénita (HSC) caracterizada por formas virilizantes o perdedoras de sal simples que pueden manifestarse con un desarrollo genital anómalo, asociando niveles variables de virilización en las mujeres e insuficiencia suprarrenal en ambos sexos, y que se presenta con deshidratación e hipoglucemia (que puede resultar letal sin tratamiento) en el período neonatal, así como con hiperandrogenismo.","Spanish_Disease_Name__c":"hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa","Spanish_GARD_Synonym__c":"cah 21-ohd clásica; hsc 21-ohd clásica","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) affects the adrenal glands which are responsible for producing specific hormones. There are two types of classic 21-OHD CAH, the salt-wasting form and the simple-virilizing form. Symptoms include abnormal development of the external sex organs in females (ambiguous genitalia), early puberty, and short stature. The salt-wasting form also may include the inability to retain salt and water. This can lead to dehydration, low blood pressure, and a life-threatening adrenal crisis. Classic 21-OHD CAH is caused by a genetic pathogenic variant in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, blood hormone testing and may be confirmed by the results of genetic testing. Classic 21-OHD CAH can be diagnosed through a newborn screen.","Curated_Disease_Description_Source__c":"GARD:0012665","GARD_Synonym__c":"21-ohd; classic 21-ohd cah","Name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CARES Foundation","Website__c":"https://caresfoundation.org/"},{"Account_Name__c":"Adrenal Insufficiency United","Website__c":"https://aiunited.org/"},{"Account_Name__c":"National Adrenal Diseases Foundation","Website__c":"https://www.nadf.us"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:90794"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:90794"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90794"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:90794"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90794"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:90794"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1171","Source__c":"Gene Review","Xref__c":"NBK1171"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131087","Source__c":"MONDO:0008728","Xref__c":"C131087"},{"URL__c":"https://www.omim.org/entry/201910","Source__c":"MONDO:0008728; ORPHA:90794","Xref__c":"OMIM:201910"},{"URL__c":"https://www.orpha.net/en/disease/detail/90794","Source__c":"MONDO:0008728","Xref__c":"ORPHA:90794"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535979","Source__c":"MONDO:0008728","Xref__c":"C535979"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717261006","Source__c":"C4273964; MONDO:0008728","Xref__c":"717261006"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124221007","Source__c":"MONDO:0008728","Xref__c":"124221007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008728","Source__c":"GARD:0012665","Xref__c":"MONDO:0008728"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273964","Source__c":"C4273964","Xref__c":"C4273964"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=903755","Source__c":"C4273964","Xref__c":"MEDGEN:903755"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP21A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp21a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000127","HPO_Synonym__c":"Loss of salt in urine; Renal salt-wasting; Salt wasting; Salt-wasting","HPO_Name__c":"Renal salt wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The onset of puberty before the age of 8 years in girls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010465","HPO_Name__c":"Precocious puberty in females","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of androstenedione in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025380","HPO_Synonym__c":"Increased serum androstenedione","HPO_Name__c":"Increased circulating androstenedione concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of progesterone in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031216","HPO_Name__c":"Increased circulating progesterone","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004012","HPO_Name__c":"Premature fusion of the radial epiphyseal plates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025451","HPO_Name__c":"Testicular adrenal rest tumor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003154","HPO_Synonym__c":"High blood corticotropin levels; Increased circulating ACTH level; Increased plasma ACTH","HPO_Name__c":"Increased circulating ACTH level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002153","HPO_Synonym__c":"Increased circulating potassium concentration","HPO_Name__c":"Hyperkalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of ovarian function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031066","HPO_Name__c":"Abnormal ovarian physiology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000876","HPO_Synonym__c":"Light or infrequent menstrual periods","HPO_Name__c":"Oligomenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001507","HPO_Synonym__c":"Abnormal growth; Growth abnormality; Growth issue","HPO_Name__c":"Growth abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003639","HPO_Synonym__c":"Increased urinary epinephrine","HPO_Name__c":"Elevated urinary epinephrine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovulation cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000140","HPO_Synonym__c":"Abnormality of the menstrual cycle","HPO_Name__c":"Abnormality of the menstrual cycle","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011106","HPO_Synonym__c":"Depleted blood volume","HPO_Name__c":"Hypovolemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008207","HPO_Synonym__c":"Adrenocortical insufficiency; Primary adrenocortical failure","HPO_Name__c":"Primary adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of sodium(1+) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012605","HPO_Synonym__c":"Increased urinary sodium","HPO_Name__c":"Hypernatriuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031074","HPO_Synonym__c":"Abnormal response to adrenocorticotropic-hormone stimulation test; Abnormal response to corticotropin stimulation test","HPO_Name__c":"Abnormal response to ACTH stimulation test","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the external genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000811","HPO_Synonym__c":"Abnormal external genitalia","HPO_Name__c":"Abnormal external genitalia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000151","HPO_Synonym__c":"Absent uterus; uterus absent","HPO_Name__c":"Aplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onset of adrenarche at an earlier age than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012412","HPO_Name__c":"Premature adrenarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005976","HPO_Name__c":"Hyperkalemic metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The onset of growth of pubic hair at an earlier age than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012411","HPO_Synonym__c":"Premature pubic hair growth","HPO_Name__c":"Premature pubarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Penile length more than 2 SD above the mean for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000040","HPO_Synonym__c":"Enlarged penis; Long penis","HPO_Name__c":"Long penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031273","HPO_Name__c":"Shock","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated circulating testosterone level in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030088","HPO_Synonym__c":"High serum testosterone level; High serum testosterone levels; Increased serum testosterone levels","HPO_Name__c":"Increased serum testosterone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The outer labia are sealed together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025486","HPO_Name__c":"Fused labia majora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally reduced concentration of cortisol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008163","HPO_Synonym__c":"Decreased cortisol production; Glucocorticoid insufficiency; Hypocortisolemia; Low blood cortisol level; Low to undetectable plasma cortisol; Plasma cortisol low","HPO_Name__c":"Decreased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased chloride concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003113","HPO_Synonym__c":"Low blood chloride levels","HPO_Name__c":"Hypochloremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000841","HPO_Name__c":"Hyperactive renin-angiotensin system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally reduced blood carbon dioxide (CO2) level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012417","HPO_Synonym__c":"Hypocarbia; Reduced carbon dioxide in the blood","HPO_Name__c":"Hypocapnia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally reduced levels of aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004319","HPO_Synonym__c":"Decreased aldosterone; Decreased aldosterone production; Decreased serum aldosterone; Hypoaldosteronism; Low blood aldosterone level; Mineralocorticoid insufficiency","HPO_Name__c":"Decreased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia in an individual with XX genetic sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000061","HPO_Synonym__c":"Atypical appearance of female genitals","HPO_Name__c":"Ambiguous genitalia, female","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of hair in the anterior midline and/or parietal areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002292","HPO_Synonym__c":"Frontal balding","HPO_Name__c":"Frontal balding","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rare birth defect in women where the urethra and vagina both open into a common channel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100779","HPO_Name__c":"Urogenital sinus anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031213","HPO_Synonym__c":"Elevated circulating 17-hydroxyprogesterone; Elevated circulating 17-OHP","HPO_Name__c":"Elevated circulating 17-hydroxyprogesterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030348","HPO_Synonym__c":"Hyperandrogenemia; Increased circulating androgen level","HPO_Name__c":"Increased circulating androgen concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from the normal concentration of dehydroepiandrosterone in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500022","HPO_Synonym__c":"Abnormal serum androstenolone level; Abnormal serum dehydroepiandrosterone level; Abnormal serum DHEA","HPO_Name__c":"Abnormal circulating dehydroepiandrosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["21-ohd"," classic 21-ohd cah"]}