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363290007: Reproductive system hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482435019 Reproductive system hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755097012 Reproductive system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5230361000241117 affection de l'appareil reproducteur, héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

94 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Reproductive system hereditary disorder Is a Disorder of reproductive system true Inferred relationship Some
Reproductive system hereditary disorder Is a Hereditary disorder by system true Inferred relationship Some
Reproductive system hereditary disorder Finding site Structure of anatomical reproductive system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Testicular tumor of adrenogenital syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Severe steroid 21-hydroxylase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Transitory amino acid metabolic disorder Is a False Reproductive system hereditary disorder Inferred relationship Some
Iodotyrosine deiodination defect Is a False Reproductive system hereditary disorder Inferred relationship Some
Autosomal dominant variant form of albumin Is a False Reproductive system hereditary disorder Inferred relationship Some
Neonatal iminoglycinuria Is a False Reproductive system hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Reproductive system hereditary disorder Inferred relationship Some
Familial adrenocortical hypoplasia Is a False Reproductive system hereditary disorder Inferred relationship Some
Placental sulfatase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Corticosterone 18-monooxygenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
17 alpha-Hydroxyprogesterone aldolase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Transient neonatal hyperglycinemia Is a False Reproductive system hereditary disorder Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Reproductive system hereditary disorder Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
diabète insipide néphrogénique héréditaire Is a False Reproductive system hereditary disorder Inferred relationship Some
Adrenoleukodystrophy Is a False Reproductive system hereditary disorder Inferred relationship Some
Autosomal dominant excess of transthyretin Is a False Reproductive system hereditary disorder Inferred relationship Some
Benign neonatal hyperaminoaciduria Is a False Reproductive system hereditary disorder Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin Is a False Reproductive system hereditary disorder Inferred relationship Some
Hereditary vitamin D dependency syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Transient neonatal hypertyrosinemia Is a False Reproductive system hereditary disorder Inferred relationship Some
Neonatal hyperhistidinemia Is a False Reproductive system hereditary disorder Inferred relationship Some
Opitz-Frias syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, dominant form Is a False Reproductive system hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, recessive form Is a False Reproductive system hereditary disorder Inferred relationship Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa Is a False Reproductive system hereditary disorder Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction Is a True Reproductive system hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. Is a True Reproductive system hereditary disorder Inferred relationship Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadism with prune belly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Is a True Reproductive system hereditary disorder Inferred relationship Some
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Is a True Reproductive system hereditary disorder Inferred relationship Some
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Is a True Reproductive system hereditary disorder Inferred relationship Some
Familial hypospadias of penis (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Is a True Reproductive system hereditary disorder Inferred relationship Some
A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbor PVs in HBOC genes do not have a suggestive family history. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian 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 partial scalp alopecia. Is a True Reproductive system hereditary disorder Inferred relationship Some
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. Is a True Reproductive system hereditary disorder Inferred relationship Some
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Reproductive system hereditary disorder Inferred relationship Some
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a True Reproductive system hereditary disorder Inferred relationship Some
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. Is a True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadism with anosmia Is a False Reproductive system hereditary disorder Inferred relationship Some
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. Is a True Reproductive system hereditary disorder Inferred relationship Some
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a False Reproductive system hereditary disorder Inferred relationship Some
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Is a True Reproductive system hereditary disorder Inferred relationship Some
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. Is a True Reproductive system hereditary disorder Inferred relationship Some
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. Is a True Reproductive system hereditary disorder Inferred relationship Some
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype. Is a True Reproductive system hereditary disorder Inferred relationship Some
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Is a True Reproductive system hereditary disorder Inferred relationship Some
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Is a True Reproductive system hereditary disorder Inferred relationship Some
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Is a True Reproductive system hereditary disorder Inferred relationship Some
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. Is a True Reproductive system hereditary disorder Inferred relationship Some
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Is a True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. Is a True Reproductive system hereditary disorder Inferred relationship Some
Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis. Is a True Reproductive system hereditary disorder Inferred relationship Some
syndrome héréditaire de prédisposition au cancer de l'ovaire Is a False Reproductive system hereditary disorder Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Is a True Reproductive system hereditary disorder Inferred relationship Some
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene. Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Is a True Reproductive system hereditary disorder Inferred relationship Some
Leydig cell agenesis Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency. Is a True Reproductive system hereditary disorder Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a False Reproductive system hereditary disorder Inferred relationship Some
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Is a True Reproductive system hereditary disorder Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Reproductive system hereditary disorder Inferred relationship Some
Ovarioleukodystrophy Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. Is a True Reproductive system hereditary disorder Inferred relationship Some
A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles. Is a True Reproductive system hereditary disorder Inferred relationship Some

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