Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Thyroid Hormone Metabolism, Abnormal, 1 |
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Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... |
OMIM:609698 |
Panhypophysitis |
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Impotence, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating p... |
ORPHA:95513 |
Adenohypophysitis |
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Sensorineural hearing impairment, Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, ... |
ORPHA:95512 |
Non-Functioning Pituitary Adenoma |
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Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Otodental Dysplasia |
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Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long philtrum, Delayed erupt... |
OMIM:166750 |
Chudley-Mccullough Syndrome |
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Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... |
OMIM:604213 |
Otodental Syndrome |
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Abnormal dental enamel morphology, Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of p... |
ORPHA:2791 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
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Infertility, Hearing impairment, Abnormality of skin pigmentation |
OMIM:300719 |
Post-Traumatic Pituitary Deficiency |
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Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Functioning Gonadotropic Adenoma |
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Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Ane Syndrome |
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Premature loss of teeth, Hyperpigmented nevi, Decreased serum testosterone concentration, Decreas... |
ORPHA:157954 |
Endocardial Fibroelastosis |
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Abnormal helix morphology, Micrognathia, Low-set, posteriorly rotated ears, Anterior hypopituitar... |
ORPHA:2022 |
Sheehan Syndrome |
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Impotence, Dyspareunia, Central adrenal insufficiency, Decreased circulating cortisol level, Orth... |
ORPHA:91355 |
Spermatogenic Failure, X-Linked, 4 |
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Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Pituicytoma |
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Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... |
ORPHA:251623 |
Prolactin Deficiency, Isolated |
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Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Pituitary Hormone Deficiency, Combined, 2 |
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Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Hypothyroidism, Central, With Testicular Enlargement |
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Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
Growth Hormone Deficiency, Isolated Partial |
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Decreased response to growth hormone stimulation test, Small pituitary gland |
OMIM:615925 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... |
ORPHA:171706 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Sensorineural hearing impairment, Decreased thyroid-stimulating hormone level, Decreased circulat... |
ORPHA:226307 |
Kearns-Sayre Syndrome |
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Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism |
ORPHA:480 |
48,Xxyy Syndrome |
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Infertility, Type II diabetes mellitus, Taurodontia, Cleft palate, Open bite, Hypergonadotropic h... |
ORPHA:10 |
Amelogenesis Imperfecta |
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Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Cerebral atrophy, Decreased response to growth hormone stimulation test, Long philtrum, Cerebella... |
OMIM:616430 |
Meningioma |
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Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... |
ORPHA:2495 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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High palate, Tooth agenesis, Cryptorchidism, Micrognathia, Delayed eruption of teeth, Anterior hy... |
ORPHA:2863 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism |
OMIM:301033 |
Gangliocytoma |
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Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... |
ORPHA:251937 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
Thyroid Hormone Resistance, Selective Pituitary |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
Isolated Growth Hormone Deficiency, Type Iv |
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Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... |
OMIM:618157 |
Pituitary Carcinoma |
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Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
Mehmo Syndrome |
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Decreased response to growth hormone stimulation test, Cleft palate, Open mouth, Macrotia, Long p... |
OMIM:300148 |
Perrault Syndrome 1 |
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Sensorineural hearing impairment, High palate, Primary amenorrhea, Cerebellar atrophy, Increased ... |
OMIM:233400 |
X-Linked Intellectual Disability, Van Esch Type |
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Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Microtia, ... |
ORPHA:163976 |
Pituitary Hormone Deficiency, Combined, 3 |
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Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Anterior... |
OMIM:221750 |
Rhyns Syndrome |
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Hearing impairment, Hypopituitarism |
ORPHA:140976 |
Pituitary Apoplexy |
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Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Sensorineural hearing impairment, Adrenocorticotropic hormone deficiency, Decreased response to g... |
ORPHA:231720 |
Hyperthyroidism, Familial Gestational |
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Decreased thyroid-stimulating hormone level, Hyperthyroidism |
OMIM:603373 |
Opticocochleodentate Degeneration |
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Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Oligodontia |
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Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
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Sensorineural hearing impairment, Taurodontia, Abnormality of the dentition, Primary amenorrhea, ... |
ORPHA:3220 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Triple A Syndrome |
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Sensorineural hearing impairment, Adrenal insufficiency, Anterior hypopituitarism, Optic atrophy,... |
ORPHA:869 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
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Sensorineural hearing impairment, Narrow mouth, Decreased response to growth hormone stimulation ... |
ORPHA:436174 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
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Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
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Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism |
OMIM:301035 |
Pseudohypoparathyroidism Type 1A |
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Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Reduced ... |
ORPHA:79443 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... |
ORPHA:95494 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Eec Syndrome |
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Sensorineural hearing impairment, Tooth agenesis, Abnormality of the middle ear, Decreased respon... |
ORPHA:1896 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
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High palate, Low-set ears, Anodontia, Dental malocclusion, Narrow palate, Decreased response to g... |
OMIM:264475 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Non-Acquired Panhypopituitarism |
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Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... |
ORPHA:90695 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
48,Xxxy Syndrome |
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Abnormal dental enamel morphology, Infertility, Type II diabetes mellitus, Taurodontia, Cleft pal... |
ORPHA:96263 |
X-Linked Intellectual Disability, Cilliers Type |
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Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Absen... |
ORPHA:163971 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
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Cochlear degeneration, Progressive sensorineural hearing impairment, Diabetes mellitus |
OMIM:172500 |
Dentin Dysplasia, Type I |
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Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Sensorineural hearing impairment, Taurodontia, High, narrow palate, Short philtrum, Hypopigmentat... |
ORPHA:3214 |
Smith-Magenis Syndrome |
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Cleft upper lip, Conductive hearing impairment, Precocious puberty, Taurodontia, Cleft palate, Mi... |
ORPHA:819 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... |
OMIM:600791 |
49,Xxxyy Syndrome |
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Abnormality of the testis size, Decreased serum testosterone concentration, Micrognathia, Low-set... |
ORPHA:261534 |
Isolated Growth Hormone Deficiency, Type Ib |
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Decreased response to growth hormone stimulation test |
OMIM:612781 |
49,Xxxxy Syndrome |
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Abnormal dental enamel morphology, Infertility, Type II diabetes mellitus, Taurodontia, Cleft pal... |
ORPHA:96264 |
Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Cleft palate, Panhypopituitarism, Cleft li... |
OMIM:616784 |
Taurodontism, Microdontia, And Dens Invaginatus |
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Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Primary amenorrhea, Hearing impairment, Secondary amenorrhea, Decreased serum estra... |
ORPHA:243 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Premature graying of hair, Decreased response to growth hormone stimulation test, Hypergonadotrop... |
ORPHA:280679 |
Orthostatic Hypotension 1 |
|
High palate, Orthostatic hypotension, Retrograde ejaculation, Reduced circulating prolactin conce... |
OMIM:223360 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Bonnemann-Meinecke-Reich Syndrome |
|
Micrognathia, Decreased response to growth hormone stimulation test |
ORPHA:1261 |
Rhyns Syndrome |
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Conductive hearing impairment, Pituitary hypothyroidism, Anterior hypopituitarism, Decreased resp... |
OMIM:602152 |
49,Xyyyy Syndrome |
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Increased circulating gonadotropin level, Abnormality of the testis size, Decreased serum testost... |
ORPHA:99330 |
Prolactinoma |
|
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Erectile dys... |
ORPHA:2965 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased response to growth hormone stimulation test |
OMIM:173100 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Aplasia of the inner ear, Microtia, first degree, Micrognathia, Microdontia, Widely spaced teeth,... |
OMIM:610706 |
Perrault Syndrome 4 |
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Hypoplasia of the ovary, Cleft palate, Primary amenorrhea, Oligomenorrhea, Secondary amenorrhea, ... |
OMIM:615300 |
Deafness, Autosomal Dominant 77 |
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Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Decreased resp... |
ORPHA:1435 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Underfol... |
OMIM:157980 |
Deafness, Autosomal Dominant 9 |
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Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Panhypopituitarism, X-Linked |
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Panhypopituitarism |
OMIM:312000 |
Acrootoocular Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Anodontia, Dental malocclusion, ... |
ORPHA:2980 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Premature graying of hair, Decreased response to growth hormone stimulation test, Hypergonadotrop... |
OMIM:300845 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Pituitary Dwarfism With Large Sella Turcica |
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Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Protruding ear, Taurodontia, Smooth philtrum |
OMIM:614378 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Small pituitary gland |
OMIM:614880 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... |
ORPHA:2563 |
Nance-Horan Syndrome |
|
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Macrotia |
OMIM:302350 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test |
OMIM:618160 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... |
ORPHA:91354 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Pigmentary ... |
OMIM:275400 |
Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter |
OMIM:255900 |
Cranioectodermal Dysplasia |
|
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... |
ORPHA:1515 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
Pallister-Hall Syndrome |
|
Central adrenal insufficiency, Cleft palate, Hypothalamic hamartoma, Thyroid hypoplasia, Precocio... |
ORPHA:672 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Kallmann Syndrome |
|
Sensorineural hearing impairment, Tooth agenesis, Dyspareunia, Cleft palate, Hypogonadotropic hyp... |
ORPHA:478 |
Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Adrenal hypoplasia, Low-set ears, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:614732 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Decreased response to growth hormone stimulation test, Overfolded helix, Micrognathi... |
OMIM:609757 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Low-set ears, Cryptorchidism, Malar flattening, Oligospermia,... |
ORPHA:8 |
Cleft Lip/Palate |
|
Conductive hearing impairment, Dental malocclusion, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Brain atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media |
OMIM:615286 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Cryptorchid... |
OMIM:616202 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... |
OMIM:275000 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Tented upp... |
OMIM:606407 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted lower lip vermilion, Delayed eruption of teeth, Anterior hypopituitarism, Microdontia, Hy... |
ORPHA:181 |
Oculodentodigital Dysplasia |
|
Cleft upper lip, Conductive hearing impairment, Abnormal pinna morphology, Premature loss of teet... |
OMIM:164200 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... |
ORPHA:54595 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Abnormality of the ear, Tooth agenesis, Taurodontia, Cleft palate,... |
ORPHA:2710 |
Congenital Hypothyroidism |
|
Sinusitis, Abnormality of the thyroid gland, Macroglossia, Thyroid dysgenesis, Goiter, Anterior h... |
ORPHA:442 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co... |
ORPHA:2232 |
4H Leukodystrophy |
|
Decreased response to growth hormone stimulation test, Hypodontia, Hypogonadotropic hypogonadism,... |
ORPHA:289494 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... |
OMIM:274300 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Elevated calcitonin, Dental malocclusion, Decreased growth hormone responses to growth hormone-re... |
OMIM:101800 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Goiter, Hyperthyroidism |
OMIM:613239 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Recurrent mandibular subluxations, Ever... |
OMIM:225410 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Helsmoortel-Van Der Aa Syndrome |
|
Wide mouth, Decreased response to growth hormone stimulation test, Everted lower lip vermilion, L... |
OMIM:615873 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
High palate, Decreased response to growth hormone stimulation test, Decreased testicular size, Ma... |
ORPHA:457240 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Type I diabetes mellitus, Transient neutropenia |
OMIM:619707 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Stenosis of the external auditory canal, Abnormality of the dentition, Congenital hypothyroidism,... |
OMIM:601427 |
15Q24 Microdeletion Syndrome |
|
Narrow mouth, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormality ... |
ORPHA:94065 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Infertility, Hearing impairment, Goiter |
OMIM:617577 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Cerebellar-Facial-Dental Syndrome |
|
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Decreased response to growth hormone stimulation test, Microtia, Micrognathia, Congenital adrenal... |
OMIM:618336 |
Holoprosencephaly 9 |
|
Cleft palate, Short philtrum, Underdeveloped tragus, Hypoplasia of the maxilla, Solitary median m... |
OMIM:610829 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Periodontitis, Taurodontia, Hypermelanotic macule, Hypodontia, Prematur... |
ORPHA:1775 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Low-set, posteriorly rotated ea... |
OMIM:615502 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... |
OMIM:241410 |
Intellectual Disability-Strabismus Syndrome |
|
High palate, Low-set ears, Recurrent otitis media, Wide mouth, Cryptorchidism, Decreased response... |
ORPHA:363528 |
Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Small pituitary gland, Downturned corners ... |
OMIM:619476 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Decreased response to growth hormone stimulation test, Malar flattening, Thin vermil... |
OMIM:601853 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
High palate, Amenorrhea, Female infertility, Cupped ear, Irregular menstruation, Increased circul... |
OMIM:110100 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland |
OMIM:612702 |
16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Wide mouth, Decreased response to growth hormone stimulation test, High, narrow pa... |
ORPHA:485405 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... |
ORPHA:3352 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, Cerebral atrophy, Hippocampal atrophy, Pan... |
OMIM:618922 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Conductive hearing impairment, Protruding ear, Agenesis of central incisor, Taurodon... |
ORPHA:2751 |
Tsh-Secreting Pituitary Adenoma |
|
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... |
ORPHA:91347 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Cleft palate, Micrognathia, Adrenal hypopl... |
OMIM:220210 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Decreased circula... |
ORPHA:95715 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Cheilitis, Generalized hypopigmentation, Abn... |
ORPHA:534 |
Pycnodysostosis |
|
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Decreas... |
ORPHA:763 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating androgen concentrati... |
ORPHA:293978 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Infertility, Chronic otitis media, Chronic sinusitis, Absent inner... |
OMIM:618063 |
Mpdu1-Cdg |
|
Prominent frontal sinuses, Decreased response to growth hormone stimulation test, Thin vermilion ... |
ORPHA:79323 |
Septopreoptic Holoprosencephaly |
|
Central diabetes insipidus, Perisylvian polymicrogyria, Precocious puberty, Anterior hypopituitarism |
ORPHA:280195 |
Frontorhiny |
|
Congenital conductive hearing impairment, Cleft palate, Bifid tongue, Low-set, posteriorly rotate... |
ORPHA:391474 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Low-set ears, Notched primary central incisor |
OMIM:620062 |
Coffin-Siris Syndrome 9 |
|
High palate, Decreased response to growth hormone stimulation test, Everted lower lip vermilion, ... |
OMIM:615866 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Anterior hypopituitarism, Cleft palate |
OMIM:601016 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... |
OMIM:229070 |
Schimke Immuno-Osseous Dysplasia |
|
Hypermelanotic macule, Hypodontia, Pancreatitis, Microdontia, Multiple lentigines, Abnormality of... |
ORPHA:1830 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Everted lower lip vermilion, Long philtrum, Posterior pituitary hypopl... |
ORPHA:75389 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Hypothalamic hamartoma, Micrognathia, Anterior hypopituitarism, Median cleft lip, M... |
OMIM:241800 |
Aarskog-Scott Syndrome |
|
Large earlobe, Cleft upper lip, Testicular atrophy, Decreased serum testosterone concentration, C... |
OMIM:305400 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased circulating pro... |
ORPHA:91351 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Otitis media, Hypergonad... |
OMIM:203800 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Compensated hypothyroidism, Cholesteatoma,... |
OMIM:610978 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Decreased serum testosterone concentration, Streak ovary, Primary amenorrhea, Decrea... |
ORPHA:168563 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Somatomammotropinoma |
|
Amenorrhea, Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth... |
ORPHA:314769 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased serum testosterone concentration, Cryptorchidism, Thin vermilion border, Decreased test... |
OMIM:300869 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Cafe-au-lait spot, Inc... |
ORPHA:759 |
Galloway-Mowat Syndrome 6 |
|
High palate, Wide mouth, Cerebellar vermis atrophy, Decreased response to growth hormone stimulat... |
OMIM:618347 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Decreased response to growth hormone stimulation test |
OMIM:225755 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Decreased response to growth hormone stimulation test, Oligodontia, Progressive hearing impairmen... |
OMIM:619234 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:95717 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... |
OMIM:618723 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased testicular ... |
OMIM:614837 |
Giant Axonal Neuropathy |
|
Abnormality of the pituitary gland |
ORPHA:643 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... |
ORPHA:363417 |
Woodhouse-Sakati Syndrome |
|
Anodontia, Protruding ear, Hyperinsulinemia, Decreased serum testosterone concentration, Decrease... |
ORPHA:3464 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal response to ACTH... |
ORPHA:90793 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Wide mouth, Abnormality of the tongue, Supernumerary tooth, A... |
ORPHA:314621 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:94086 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decr... |
OMIM:619665 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Decreased response to growth hormone stimulat... |
OMIM:216550 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft upper lip, U-Shaped upper ... |
OMIM:601808 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr... |
OMIM:616185 |
Hypertriglyceridemia 1 |
|
Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism |
OMIM:144600 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Optic nerve... |
OMIM:609053 |
Ciliary Dyskinesia, Primary, 2 |
|
Infertility, Sinusitis, Otitis media, Hearing impairment, Absent inner and outer dynein arms |
OMIM:606763 |
Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
Acromegaly |
|
Pituitary growth hormone cell adenoma, Abnormality of the endocrine system, Elevated circulating ... |
ORPHA:963 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty, R... |
OMIM:307200 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... |
OMIM:615577 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Low-set ears, Narrow mouth, Decreased response to growth hormone stimulation test, Micrognathia, ... |
OMIM:614114 |
Deeah Syndrome |
|
High palate, Low-set ears, Narrow mouth, Narrow palate, Exocrine pancreatic insufficiency, Crypto... |
OMIM:619004 |
Myasthenic Syndrome, Congenital, 22 |
|
Tented upper lip vermilion, Decreased response to growth hormone stimulation test |
OMIM:616224 |
Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Gray matter heterotopia, Cleft palate, Periventric... |
OMIM:603671 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Nelson Syndrome |
|
Type II diabetes mellitus, Adrenocorticotropic hormone excess, Increased circulating cortisol lev... |
ORPHA:199244 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cleft palate, Diastema, Microdontia, Optic atrophy, Deep philtrum, Talon cusp, Bilateral sensorin... |
OMIM:605282 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorr... |
OMIM:612310 |
African Trypanosomiasis |
|
Infertility, Abnormality of the endocrine system, Impotence, Abnormal prolactin level, Abnormalit... |
ORPHA:3385 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... |
OMIM:614963 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... |
ORPHA:177901 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Meier-Gorlin Syndrome 6 |
|
Conductive hearing impairment, Microretrognathia, Decreased response to growth hormone stimulatio... |
OMIM:616835 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Ovarian cyst, Abnormality ... |
OMIM:228300 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... |
ORPHA:98793 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus |
OMIM:304900 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Narrow palate, Decreased response to growth hormone stimulation test, Cleft p... |
OMIM:618223 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Secondary amenorrhea, Elevate... |
OMIM:612964 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary |
OMIM:613986 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... |
ORPHA:177904 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Irregular menstruation, ... |
OMIM:619203 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:182230 |
Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
Charge Syndrome |
|
Cleft palate, Overfolded helix, Delayed eruption of teeth, Optic atrophy, Abnormality of the inne... |
ORPHA:138 |
Srd5A3-Cdg |
|
Spotty hyperpigmentation, Decreased response to growth hormone stimulation test, Hypothyroidism, ... |
ORPHA:324737 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabetes mellitus, Ne... |
OMIM:301078 |
Woodhouse-Sakati Syndrome |
|
Sensorineural hearing impairment, Anodontia, Protruding ear, Decreased serum testosterone concent... |
OMIM:241080 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating prola... |
OMIM:300942 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Prader-Willi-Like Syndrome |
|
Perisylvian polymicrogyria, Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin ... |
ORPHA:398073 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Taurodontia, Periorbital hyperpigmentation, Hypodontia, Everted lower lip vermilio... |
OMIM:305100 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:226313 |
Premature Ovarian Failure 11 |
|
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Pallister-Hall Syndrome |
|
Cleft upper lip, Precocious puberty, Decreased response to growth hormone stimulation test, Cleft... |
OMIM:146510 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618014 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Sensorineural hearing impairment, Narrow mouth, Cerebral cortical atrophy, Decreased response to ... |
OMIM:616007 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... |
OMIM:617442 |
46,Xy Sex Reversal 11 |
|
Decreased serum testosterone concentration, Absence of pubertal development, Elevated circulating... |
OMIM:273250 |
Monosomy 18Q |
|
Sensorineural hearing impairment, High palate, Wide mouth, Open mouth, Short philtrum, Bilateral ... |
ORPHA:1600 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Panhypopituitarism, Fusion of the left and right thalami, Bilateral... |
OMIM:610828 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Hartsfield Syndrome |
|
Cleft upper lip, Low-set ears, Cleft palate, Gonadotropin deficiency, Hypoplasia of the frontal b... |
OMIM:615465 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sensorineural hearing impairment, Hypodontia, Overfolded helix, Thin vermilion border, Elevated c... |
OMIM:618419 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... |
OMIM:619705 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Wide mouth, Decreased response to growth hormone stimulation test, Deep philtrum, Low-set ears, P... |
OMIM:617260 |
Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Microtia, H... |
OMIM:603467 |
Prader-Willi Syndrome |
|
Perisylvian polymicrogyria, Central adrenal insufficiency, Abnormality of the dentition, Primary ... |
ORPHA:739 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Decreased circulating T4 concentration, Impaired sensitivity... |
ORPHA:90673 |
Juberg-Hayward Syndrome |
|
Cleft upper lip, Decreased response to growth hormone stimulation test |
OMIM:216100 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... |
OMIM:176400 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Hypothyroidism, Type ... |
OMIM:606367 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow mouth, Precocious puberty, Decreased response to growth hormone stimulation test, High, na... |
ORPHA:96182 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizin... |
ORPHA:572333 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:300068 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... |
OMIM:147250 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Hypergon... |
OMIM:602782 |
Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Tooth agenesis, Panhypopituitarism, External ear malformation, Ant... |
ORPHA:2162 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Underfolded helix, Mandib... |
OMIM:263540 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
Pseudohypoparathyroidism Type 1B |
|
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... |
ORPHA:94089 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Increased circulating gonadotropin level, High palate, Chordee, Decreased serum testosterone conc... |
ORPHA:1772 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test |
OMIM:618624 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft upper lip, Fair hair, Cryptorchidism, Decreased response to growth hormone stimulation test... |
OMIM:604292 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Tbck-Related Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Central adrenal insufficiency, Hyperthyroidism, Decreased respo... |
ORPHA:488632 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Decreased circulating androgen concentr... |
ORPHA:95699 |
Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
Microphthalmia, Syndromic 6 |
|
High palate, Uplifted earlobe, Protruding ear, Cerebral cortical atrophy, Cryptorchidism, Cleft p... |
OMIM:607932 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Multiple lentigine... |
OMIM:615280 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Cleft upper lip, Conductive hearing impairment, Fair hair, Decreased response to growth hormone s... |
OMIM:129900 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoimmune throm... |
ORPHA:227982 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Sensorineural hearing impairment, Adrenocorticotropic hormone deficiency, Decreased response to g... |
ORPHA:293987 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
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Decreased response to growth hormone stimulation test |
OMIM:245590 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... |
OMIM:102700 |
Leydig Cell Hypoplasia |
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Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Femal... |
ORPHA:755 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Hypothyroidism, Decreased proportio... |
OMIM:614700 |
Shwachman-Diamond Syndrome |
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Sinusitis, Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation te... |
ORPHA:811 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells |
OMIM:618048 |
Culler-Jones Syndrome |
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Cleft upper lip, Cleft palate, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Crypto... |
OMIM:615849 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Agenesis of molar, Supernumerary tooth, Hypogonadotropic hypogonadism, Diastema, Microdontia, Del... |
OMIM:619718 |
Frasier Syndrome |
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Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased serum estradiol, Incr... |
ORPHA:347 |
Acth Deficiency, Isolated |
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Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Ovarian Dysgenesis 3 |
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Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Estrogen Resistance Syndrome |
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Hyperinsulinemia, Absence of pubertal development, Primary amenorrhea, Absence of secondary sex c... |
ORPHA:785 |
Ovarian Dysgenesis 8 |
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Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618187 |
Complete Androgen Insensitivity Syndrome |
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Increased serum testosterone level, Increased antimullerian hormone level, Abnormal circulating f... |
ORPHA:99429 |
Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoimmune thrombocytopenia, Mac... |
ORPHA:227990 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Enamel hypoplasia, Taurodontia, Pulp calcification |
OMIM:211900 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Hypothyroidism, Hypopituitarism |
OMIM:619013 |
46,Xy Sex Reversal 1 |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Abnormality of the menstrual ... |
OMIM:400044 |
Silver-Russell Syndrome 1 |
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Decreased response to growth hormone stimulation test, Micrognathia, Testicular seminoma, Downtur... |
OMIM:180860 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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High palate, Cleft upper lip, Gingival overgrowth, Decreased response to growth hormone stimulati... |
OMIM:213980 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... |
ORPHA:90674 |
Semilobar Holoprosencephaly |
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Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Sensorineural hearing impairment, High palate, Abnormality of the endocrine system, Decreased res... |
ORPHA:93924 |
Tooth Agenesis, Selective, 3 |
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Oligodontia, Oligodontia of primary teeth, Microdontia, Anhidrosis, Agenesis of permanent molar |
OMIM:604625 |
Prader-Willi Syndrome Due To Translocation |
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High palate, Wide mouth, Cleft palate, Carious teeth, Retrognathia, Hypogonadotropic hypogonadism... |
ORPHA:177907 |
Prader-Willi Syndrome |
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Adrenal insufficiency, Infertility, Type II diabetes mellitus, Hyperinsulinemia, Precocious puber... |
OMIM:176270 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Breas... |
ORPHA:3044 |
Immunodeficiency 92 |
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Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Microform Holoprosencephaly |
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Cleft palate, Panhypopituitarism, Short philtrum, Maternal diabetes, Oral cleft, Hypothyroidism, ... |
ORPHA:280200 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, High palate, Decreased response ... |
ORPHA:444077 |
Snakebite Envenomation |
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Gingival bleeding, Hypopituitarism |
ORPHA:449285 |
46,Xy Partial Gonadal Dysgenesis |
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Adrenal insufficiency, Ovarian gonadoblastoma, Decreased serum testosterone concentration, Crypto... |
ORPHA:251510 |
Wiedemann-Steiner Syndrome |
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High palate, Decreased response to growth hormone stimulation test, Long philtrum, Low-set ears, ... |
ORPHA:319182 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Decreased serum testosterone concentration, Decreased circulating androgen concentration, Elevate... |
ORPHA:90796 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Partial Androgen Insensitivity Syndrome |
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Abnormal circulating estrogen level, Increased serum testosterone level, Increased antimullerian ... |
ORPHA:90797 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Chordee, Protruding ear, Abnormality of the endocrine system, Supernumerary tooth, Cryptorchidism... |
ORPHA:268261 |
Charge Syndrome |
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Aplasia of the semicircular canal, Cleft palate, Aplasia/Hypoplasia of the thymus, Parathyroid hy... |
OMIM:214800 |
Acromelic Frontonasal Dysplasia |
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Wide mouth, Median cleft palate, Hypopituitarism, Median cleft lip, Cryptorchidism, Anterior pitu... |
ORPHA:1827 |
Webb-Dattani Syndrome |
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Decreased response to growth hormone stimulation test, Retrognathia, Pituitary hypothyroidism, Cr... |
OMIM:615926 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... |
ORPHA:99413 |
Turner Syndrome |
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High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... |
ORPHA:881 |
Mosaic Monosomy X |
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High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... |
ORPHA:99228 |
Monosomy X |
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High palate, Hyperinsulinemia, Female infertility, Abnormality of the dentition, Primary amenorrh... |
ORPHA:99226 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Generalized bronze hyperpigmentation, Decreased circulating aldosterone level, Adrenocorticotropi... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Generalized bronze hyperpigmentation, Decreased circulating aldosterone level, Adrenocorticotropi... |
ORPHA:168558 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Adrenal insufficiency, Abnormality of the dentition, Hyperplasia of the maxil... |
ORPHA:231226 |
46,Xy Sex Reversal 3 |
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Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:612965 |
X-Linked Lymphoproliferative Disease |
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Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... |
ORPHA:2442 |
Acrodysostosis With Multiple Hormone Resistance |
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Elevated calcitonin, Fair hair, Cryptorchidism, Decreased response to growth hormone stimulation ... |
ORPHA:280651 |
Ppoma |
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Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97278 |
Grfoma |
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Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97261 |
Gabriele-De Vries Syndrome |
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High palate, Cryptorchidism, Decreased response to growth hormone stimulation test, Malar flatten... |
ORPHA:506358 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Exocrine pancreatic insufficiency, Lymphopenia, Cryptorchidism, Severe B lymphocytopenia, Accesso... |
OMIM:620005 |
Vipoma |
|
Neoplasm of the pancreas, Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid glan... |
ORPHA:97282 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating thyroid-stimulat... |
OMIM:218700 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Protruding ear, Precocious puberty, Recurrent otitis media, Cryptorchidism, Decreased response to... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Protruding ear, Precocious puberty, Recurrent otitis media, Cryptorchidism, Decreased response to... |
ORPHA:363958 |
Peters Plus Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Wide mouth, Cerebral cortical atrophy, Cleft pala... |
ORPHA:709 |
Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Decreased response ... |
ORPHA:699 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Adrenal insufficiency, Abnormality of the dentition, Hyperplasia of the maxil... |
ORPHA:231214 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Somatostatinoma |
|
Neoplasm of the pancreas, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitar... |
ORPHA:97283 |
Glucagonoma |
|
Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulati... |
ORPHA:97280 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... |
ORPHA:391487 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... |
ORPHA:508542 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Decreased response to growth hormone stimulation test, Hypothyroidism, Bilateral cryptor... |
ORPHA:96179 |
Spondyloenchondrodysplasia |
|
Dental malocclusion, Decreased response to growth hormone stimulation test, Delayed eruption of t... |
ORPHA:1855 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test |
OMIM:617784 |
Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the ear, Abnormality of the dentition, Short philtrum, Polymicrogyria, Increased c... |
ORPHA:3455 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Witteveen-Kolk Syndrome |
|
High palate, Short philtrum, Open mouth, Thick lower lip vermilion, High, narrow palate, Cupped e... |
OMIM:613406 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... |
ORPHA:64739 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Alg12-Cdg |
|
B lymphocytopenia, Patent ductus arteriosus, Cryptorchidism, Thrombocytopenia, Decreased serum in... |
ORPHA:79324 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia |
OMIM:616084 |
Ichthyosis And Male Hypogonadism |
|
Hypogonadotropic hypogonadism, Gonadotropin deficiency, Male hypogonadism |
OMIM:308200 |
46,Xx Sex Reversal 1 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:400045 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Abnormal ... |
ORPHA:221139 |
Igg4-Related Ophthalmic Disease |
|
Prostatitis, Orchitis, Pancreatitis, Sialadenitis, Eosinophilia, Enlarged lacrimal glands, Abnorm... |
ORPHA:449563 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Delayed eruption of teeth, Congenital Horner syndrome, Thyroid hypoplasi... |
OMIM:619503 |
Isolated Biliary Atresia |
|
Bile duct proliferation, Hypopituitarism, Atretic gallbladder, Hypothyroidism |
ORPHA:30391 |
Lacrimoauriculodentodigital Syndrome |
|
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Cupped ear, Mixed hearing impa... |
OMIM:149730 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Severe B lymphocytopenia, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyper... |
ORPHA:83617 |
Agammaglobulinemia, X-Linked |
|
Prostatitis, B lymphocytopenia, T lymphocytopenia, Neutropenia, Anemia |
OMIM:300755 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:251260 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Decreased fertility in males, Otitis media, Hypergonadotropic hyp... |
ORPHA:64 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypodontia, Decreased response to growth hormone stimulation test, Short philtrum, Oligodontia, M... |
OMIM:180500 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Sialadenitis, Eosinophilia, Abnormality of the anterior pituitary, Thy... |
ORPHA:449395 |
Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... |
ORPHA:325124 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Increased circulating pr... |
ORPHA:438213 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... |
OMIM:619381 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Decreased response to growth hormone stimulation test |
ORPHA:470 |