{"Name":"Primary hypergonadotropic hypogonadism-partial alopecia syndrome","DiseaseID__c":"GARD:0016588","id":16588,"encodedName":"primary-hypergonadotropic-hypogonadism-partial-alopecia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Primary hypergonadotropic hypogonadism-partial alopecia syndrome","Xref_IDs__c":"719275009; C2673480; C567109; MEDGEN:388650; MONDO:0009420; OMIM:241090; ORPHA:2232","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009420","Disease_Description__c":"A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mûllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partical scalp alopecia.","GARD_Name__c":"Primary hypergonadotropic hypogonadism-partial alopecia syndrome","GARD_Synonym__c":"al awadi-farag-teebi syndrome; hypergonadotropic hypogonadism and partial alopecia","Curated_Disease_Description_Source__c":"ORPHA:2232","Curated_Disease_Description__c":"This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2232","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009420","ORPHANET_ID__c":"ORPHA:2232","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipogonadismo hipergonadotrópico primario-alopecia parcial","Spanish_Description_Source__c":"ORPHA:2232","Spanish_Description__c":"Es un trastorno endocrino poco común caracterizado por hipogonadismo primario y alopecia parcial. Las mujeres presentan hipoplasia mûlleriana, ovarios ausentes o estriados, genitales internos hipoplásicos, amenorrea primaria y vello púbico y axilar escaso o ausente. Algunos pacientes también presentaban cejas escasas, microcefalia, occipucio plano, cifosis dorsal o discapacidad intelectual leve. El único varón descrito presenta aplasia de células germinales. Todos los pacientes presentan alopecia parcial del cuero cabelludo.","Spanish_Disease_Name__c":"síndrome de hipogonadismo hipergonadotrópico primario-alopecia parcial","Spanish_GARD_Synonym__c":"síndrome de al awadi-farag-teebi","Category_Linearization__c":"ORPHA:97978","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":"This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.","Curated_Disease_Description_Source__c":"ORPHA:2232","GARD_Synonym__c":"al awadi-farag-teebi syndrome; hypergonadotropic hypogonadism and partial alopecia","Name":"Primary hypergonadotropic hypogonadism-partial alopecia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Neonatal","Provided_By__c":"ORPHA:2232"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2232","Source__c":"C2673480; MONDO:0009420","Xref__c":"ORPHA:2232"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719275009","Source__c":"MONDO:0009420","Xref__c":"719275009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673480","Source__c":"C2673480","Xref__c":"C2673480"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=388650","Source__c":"C2673480","Xref__c":"MEDGEN:388650"},{"URL__c":"https://www.omim.org/entry/241090","Source__c":"C2673480; MONDO:0009420; ORPHA:2232","Xref__c":"OMIM:241090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567109","Source__c":"MONDO:0009420","Xref__c":"C567109"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009420","Source__c":"GARD:0016588","Xref__c":"MONDO:0009420"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002293","HPO_Synonym__c":"Pathologic hair loss from scalp; Scalp hair loss","HPO_Name__c":"Alopecia of scalp","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced convexity of the occiput (posterior part of skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005469","HPO_Synonym__c":"Flat posterior cranium; Posterior flattening of the skull","HPO_Name__c":"Flat occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000534","HPO_Synonym__c":"Abnormality of the eyebrow","HPO_Name__c":"Abnormal eyebrow morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003799","HPO_Synonym__c":"Marked delay in bone age; Marked retardation in skeletal maturation; Markedly retarded bone age","HPO_Name__c":"Marked delay in bone age","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010487","HPO_Synonym__c":"Hypoplasia of the hypothenar eminence; Hypothenar hypoplasia","HPO_Name__c":"Small hypothenar eminence","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or developmental hypoplasia of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008684","HPO_Synonym__c":"Absent/small uterus; Absent/underdeveloped uterus","HPO_Name__c":"Aplasia/hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction below normal concentration of estradiol in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008214","HPO_Synonym__c":"Decreased serum estradiol","HPO_Name__c":"Decreased serum estradiol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to develop or maintain an erection of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000802","HPO_Synonym__c":"Difficulty getting a full erection; Difficulty getting an erection","HPO_Name__c":"Impotence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003393","HPO_Synonym__c":"Thenar atrophy","HPO_Name__c":"Thenar muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003187","HPO_Synonym__c":"Underdeveloped breasts","HPO_Name__c":"Breast hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of facial hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007464","HPO_Synonym__c":"Sparse facial hair","HPO_Name__c":"Sparse facial hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Poorly defined or shallow palmar creases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006184","HPO_Synonym__c":"Hypoplastic palmar creases; Poorly formed palmar creases; Shallow palm line; Shallow palmar creases","HPO_Name__c":"Decreased palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"No secondary sexual characteristics are present at puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008187","HPO_Synonym__c":"No secondary sexual characteristics at puberty","HPO_Name__c":"Absence of secondary sex characteristics","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000789","HPO_Synonym__c":"Infertility","HPO_Name__c":"Infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008633","HPO_Synonym__c":"Absent gonadal tissue; Gonadal agenesis","HPO_Name__c":"Agonadism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010464","HPO_Name__c":"Streak ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000219","HPO_Synonym__c":"Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip","HPO_Name__c":"Thin upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008193","HPO_Name__c":"Primary gonadal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011961","HPO_Synonym__c":"Testicular azoospermia","HPO_Name__c":"Non-obstructive azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009185","HPO_Synonym__c":"Camptodactyly of 5th finger; Camptodactyly of the fifth finger","HPO_Name__c":"Contracture of the proximal interphalangeal joint of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001199","HPO_Synonym__c":"Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb","HPO_Name__c":"Triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased size of the pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012506","HPO_Name__c":"Small pituitary gland","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia, that is failure to develop, of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010463","HPO_Synonym__c":"Absent ovary","HPO_Name__c":"Aplasia of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["al awadi-farag-teebi syndrome"," hypergonadotropic hypogonadism and partial alopecia"]}