Pituitary Adenoma 5, Multiple Types |
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Pituitary adenoma |
OMIM:617540 |
Adenohypophysitis |
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Orthostatic hypotension, Decreased circulating cortisol level, Decreased female libido, Reduced c... |
ORPHA:95512 |
Panhypophysitis |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Otodental Dysplasia |
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Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Otodental Syndrome |
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High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Abnormal dental ename... |
ORPHA:2791 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Post-Traumatic Pituitary Deficiency |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Endocardial Fibroelastosis |
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Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Abnormal helix morphology, Anter... |
ORPHA:2022 |
Ane Syndrome |
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Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Functioning Gonadotropic Adenoma |
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Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Spermatogenic Failure 14 |
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Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Spermatogenic Failure, X-Linked, 4 |
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Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Pituicytoma |
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Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Growth Hormone Deficiency, Isolated Partial |
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Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Pituitary Hormone Deficiency, Combined, 2 |
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Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Kearns-Sayre Syndrome |
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Abnormality of retinal pigmentation, Anterior hypopituitarism, Hearing impairment |
ORPHA:480 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Tooth agene... |
ORPHA:2863 |
48,Xxyy Syndrome |
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Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Hypothyroidism, Central, With Testicular Enlargement |
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Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Isolated Growth Hormone Deficiency, Type Iv |
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Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Meningioma |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Gangliocytoma |
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Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Pituitary Adenoma 1, Multiple Types |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Pituitary Carcinoma |
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Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Mehmo Syndrome |
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Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Widely spaced tee... |
OMIM:300148 |
Pituitary Hormone Deficiency, Combined, 3 |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Sensorineur... |
OMIM:221750 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Sensorineur... |
ORPHA:231720 |
X-Linked Intellectual Disability, Van Esch Type |
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Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Perrault Syndrome 1 |
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Cerebellar atrophy, Increased circulating gonadotropin level, Sensorineural hearing impairment, P... |
OMIM:233400 |
Rhyns Syndrome |
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Hypopituitarism, Hearing impairment |
ORPHA:140976 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Opticocochleodentate Degeneration |
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Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Pituitary Apoplexy |
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Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
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Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Sensorineural... |
ORPHA:3220 |
Triple A Syndrome |
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Generalized hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, Adrenal insuffici... |
ORPHA:869 |
Isolated Growth Hormone Deficiency, Type Ib |
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Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... |
OMIM:612781 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
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Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Prelingu... |
ORPHA:436174 |
Rapp-Hodgkin Syndrome |
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Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Velopharyngeal i... |
OMIM:129400 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Pseudohypoparathyroidism Type 1A |
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Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... |
ORPHA:79443 |
Smith-Magenis Syndrome |
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Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi... |
ORPHA:819 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... |
ORPHA:95494 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Eec Syndrome |
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Decreased response to growth hormone stimulation test, Abnormal dental enamel morphology, Externa... |
ORPHA:1896 |
48,Xxxy Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu... |
ORPHA:3214 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
X-Linked Intellectual Disability, Cilliers Type |
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Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163971 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
49,Xxxxy Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
49,Xxxyy Syndrome |
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Low-set, posteriorly rotated ears, Mandibular prognathia, Abnormality of the testis size, Microgn... |
ORPHA:261534 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Cleft lip, Prima... |
OMIM:612702 |
Amelogenesis Imperfecta, Type Ia |
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Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Joubert Syndrome 26 |
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Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Central hypothyro... |
OMIM:616784 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Premature ... |
ORPHA:280679 |
Orthostatic Hypotension 1 |
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Orthostatic hypotension, High palate, Reduced circulating prolactin concentration, Retrograde eja... |
OMIM:223360 |
Non-Acquired Isolated Growth Hormone Deficiency |
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Anterior hypopituitarism |
ORPHA:631 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Rhyns Syndrome |
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Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Pituitar... |
OMIM:602152 |
Snijders Blok-Campeau Syndrome |
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Taurodontia, High palate, Widely spaced teeth, Low-set ears, Enamel hypoplasia |
OMIM:618205 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Perrault Syndrome 3 |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... |
OMIM:614129 |
Isolated Growth Hormone Deficiency, Type Ii |
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Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Bonnemann-Meinecke-Reich Syndrome |
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Decreased response to growth hormone stimulation test, Micrognathia |
ORPHA:1261 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Momo Syndrome |
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Delayed eruption of teeth, Underfolded helix, Abnormality of the thyroid gland, Thick lower lip v... |
ORPHA:2563 |
49,Xyyyy Syndrome |
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Low-set, posteriorly rotated ears, Decreased testicular size, Abnormality of the testis size, Mic... |
ORPHA:99330 |
Momo Syndrome |
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Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Tau... |
OMIM:157980 |
Deafness, Autosomal Dominant 9 |
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Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Prolactinoma |
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Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Decreased fertility in males, Delayed ... |
ORPHA:2965 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micr... |
OMIM:610706 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Acrootoocular Syndrome |
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Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hyperpigmented ... |
ORPHA:2980 |
Pituitary Dwarfism With Large Sella Turcica |
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Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Panhypopituitarism, X-Linked |
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Panhypopituitarism |
OMIM:312000 |
Perrault Syndrome 4 |
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Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Nance-Horan Syndrome |
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Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor, Macrotia |
OMIM:302350 |
Srd5A3-Cdg |
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Cerebellar atrophy, Decreased response to growth hormone stimulation test, Optic atrophy, Oligodo... |
ORPHA:324737 |
Cranioectodermal Dysplasia 4 |
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Thin vermilion border, Taurodontia, Smooth philtrum, Protruding ear |
OMIM:614378 |
Trichodentoosseous Syndrome |
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Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Tooth Agenesis, Selective, 9 |
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Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... |
ORPHA:3363 |
Oliver-Mcfarlane Syndrome |
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Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:275400 |
Pseudohypoparathyroidism Type 1C |
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Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... |
ORPHA:79444 |
Williams-Beuren Region Duplication Syndrome |
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Decreased response to growth hormone stimulation test, Micrognathia, Diastema, Cryptorchidism, Hi... |
OMIM:609757 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Cryptorchidism, Adrenal hypoplasia, Decreased response to growth hormone stimulation test, Low-se... |
OMIM:614732 |
Atkin-Flaitz Syndrome |
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Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... |
ORPHA:1193 |
Obesity Due To Prohormone Convertase I Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Pallister-Hall Syndrome |
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Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Low-set, posteriorly rotated ears, Micr... |
ORPHA:672 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... |
ORPHA:478 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
Tooth Agenesis, Selective, 7 |
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Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Recurrent otitis media, Decreased response to growth hormone stimulation test, Brain atrophy |
OMIM:615286 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Cerebellofaciodental Syndrome |
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Cryptorchidism, Dental malocclusion, Taurodontia, Low-set ears, Macrodontia of permanent maxillar... |
OMIM:616202 |
Hypotonia-Cystinuria Syndrome |
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Tented upper lip vermilion, Hypergonadotropic hypogonadism, Posteriorly rotated ears, Facial pals... |
OMIM:606407 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... |
ORPHA:2710 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... |
ORPHA:94065 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Macrotia, High palate, Decreased response to growth hormone stimulatio... |
ORPHA:457240 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Posteriorly rotated ears, Cryptorchidism, Cleft palate, Thin vermilion border, Low-set ears, Narr... |
OMIM:615502 |
4H Leukodystrophy |
|
Cerebellar atrophy, Delayed eruption of teeth, Hypogonadotropic hypogonadism, Abnormality of thyr... |
ORPHA:289494 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Sensorineural hearing impairment, Elevated circulat... |
OMIM:608747 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion... |
ORPHA:181 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Decreased response to growth hormone stimulat... |
OMIM:241410 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... |
ORPHA:485405 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm... |
ORPHA:2232 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate... |
OMIM:164200 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypermelanotic macule, Abnormality of the dentition,... |
ORPHA:1775 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Low-se... |
ORPHA:444072 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Stenosis of the external auditory canal, Abnormality of the dentition, Decreased response to grow... |
OMIM:601427 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... |
ORPHA:2751 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:363528 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Micrognathia, Bi... |
OMIM:618336 |
Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Thin vermilion b... |
OMIM:601853 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea... |
OMIM:619476 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Elev... |
OMIM:101800 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Notched primary central incisor, Low-set ears |
OMIM:620062 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, Cerebr... |
OMIM:618922 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia, Hypothyroidism |
OMIM:619851 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Decreased response to gro... |
ORPHA:763 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612079 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Cleft pa... |
OMIM:220210 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... |
OMIM:110100 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Diabetes insipidus, Hypoplasia of the maxilla, Hypoplastic fro... |
ORPHA:391474 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia,... |
ORPHA:75389 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula... |
OMIM:615866 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Hypermelanotic macule, Abnormal primary molar morphology, Mult... |
ORPHA:1830 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Downturned corners of ... |
OMIM:618347 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Decreased response to growth hormone stimulation test, Oligodontia, Progressive hearing impairmen... |
OMIM:619234 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Perisylvian polymicrogyria |
ORPHA:280195 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Thin vermilion border, Hypogonadism, De... |
OMIM:300869 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Thin upper lip vermilion, Decreased response... |
OMIM:601808 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Generalized h... |
ORPHA:314769 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Conical tooth, Hypohidrosis, Recurrent sinusitis, Recurrent otitis media, Hypopituitarism |
ORPHA:98813 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Mandibular prognathia, Optic nerve hypoplasia, Wide mouth, Widely spaced primary teeth, Panhypopi... |
OMIM:300953 |
Pallister-Hall-Like Syndrome |
|
Median cleft lip, Micrognathia, Microglossia, Cleft palate, Hypothalamic hamartoma, Anterior hypo... |
OMIM:241800 |
Deeah Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:619004 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate... |
ORPHA:314621 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Vertigo, Small pituitary gland, Severe sensorineura... |
OMIM:614195 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Mi... |
ORPHA:529962 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... |
OMIM:610755 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Nelson Syndrome |
|
Increased urinary cortisol level, Generalized hyperpigmentation, Testicular neoplasm, Pituitary c... |
ORPHA:199244 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Hypertriglyceridemia 1 |
|
Hypopituitarism |
OMIM:145750 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Decreased response to growth hormone stimulation test, M... |
OMIM:216550 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618117 |
Temple Syndrome |
|
Few cafe-au-lait spots, Decreased response to growth hormone stimulation test, Precocious puberty... |
ORPHA:254516 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth, Low-set ears, ... |
OMIM:614114 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... |
OMIM:615577 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Delayed puberty, Recurrent otit... |
OMIM:307200 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Conductive hearing... |
OMIM:609053 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes... |
OMIM:616835 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Generalized h... |
ORPHA:963 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Septooptic Dysplasia |
|
Anterior pituitary hypoplasia, Diabetes insipidus, Optic nerve hypoplasia, Decreased response to ... |
OMIM:182230 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:98754 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Premature ovar... |
ORPHA:199299 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Optic atrophy, Cleft palate, Bilateral sensorineural hearing... |
OMIM:605282 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:177901 |
African Trypanosomiasis |
|
Papilledema, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality... |
ORPHA:3385 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:98793 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Posteriorly rotated ears, ... |
OMIM:146510 |
Myasthenic Syndrome, Congenital, 22 |
|
Tented upper lip vermilion, Decreased response to growth hormone stimulation test |
OMIM:616224 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... |
ORPHA:177904 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:617690 |
Charge Syndrome |
|
Hypoplasia of the semicircular canal, Low-set, posteriorly rotated ears, Hypogonadotropic hypogon... |
ORPHA:138 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Monosomy 18Q |
|
Mandibular prognathia, Bilateral cryptorchidism, Sensorineural hearing impairment, Downturned cor... |
ORPHA:1600 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Anhidrosis, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical ... |
OMIM:305100 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Microtia, Conductive heari... |
OMIM:603467 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, Precocious ... |
ORPHA:96182 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Senso... |
OMIM:616007 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... |
OMIM:273250 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Xerostomia, Downturned corners of mouth, P... |
ORPHA:739 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Deep philtrum, W... |
OMIM:617260 |
Juberg-Hayward Syndrome |
|
Decreased response to growth hormone stimulation test, Cleft upper lip |
OMIM:216100 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Hartsfield Syndrome |
|
Median cleft lip, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Gonadotropin deficie... |
OMIM:615465 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... |
OMIM:617442 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Posteriorly rotated ears, Elevated circulating luteinizing hormone level, Sensorineural hearing i... |
OMIM:618419 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Holoprosencephaly |
|
Diabetes mellitus, Median cleft lip, Bilateral cleft lip, External ear malformation, Cryptorchidi... |
ORPHA:2162 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test |
OMIM:618624 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Hyperthyroidism, Tented upper lip vermilion, Decreased response to growth ... |
ORPHA:488632 |
Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618187 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
OMIM:180860 |
Androgen Insensitivity Syndrome |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:300068 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Sensorineu... |
OMIM:602782 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent median palatal ... |
OMIM:147250 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... |
OMIM:102700 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Unilateral cryptorchidism, Mic... |
ORPHA:1772 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Absent circulating B cells |
OMIM:620282 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Microphthalmia, Syndromic 6 |
|
Posteriorly rotated ears, Female hypogonadism, Uplifted earlobe, Adrenal hypoplasia, Micrognathia... |
OMIM:607932 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogo... |
OMIM:604292 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Micrognathia, Pigmentary retinopathy, High palate, Delayed puberty, Hypopituitarism |
OMIM:600462 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Hyperhidrosis, Mul... |
OMIM:615280 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimulation test |
OMIM:245590 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, ... |
OMIM:619718 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogo... |
OMIM:129900 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... |
ORPHA:755 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Sinusitis, Decreased response to growth hormone sti... |
ORPHA:811 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia |
OMIM:618048 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... |
ORPHA:227990 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism |
OMIM:619013 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Clef... |
OMIM:610828 |
Prader-Willi Syndrome Due To Translocation |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... |
ORPHA:177907 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Prader-Willi Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased resp... |
OMIM:176270 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Sensorineural ... |
ORPHA:293987 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Supernumerary ni... |
OMIM:213980 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93924 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,... |
ORPHA:3044 |
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 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Primary a... |
ORPHA:347 |
Snakebite Envenomation |
|
Hypopituitarism, Gingival bleeding |
ORPHA:449285 |
46,Xy Sex Reversal 1 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... |
OMIM:400044 |
Tooth Agenesis, Selective, 3 |
|
Anhidrosis, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia, Microdontia |
OMIM:604625 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Mixed hearing impairment, Decreased ... |
ORPHA:444077 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Wide mouth, Hypopituitarism, Med... |
ORPHA:1827 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Microform Holoprosencephaly |
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Tented upper lip vermilion, Maternal diabetes, Panhypopituitarism, Orofacial cleft, Cleft palate,... |
ORPHA:280200 |
Isolated Splenogonadal Fusion |
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Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, High palate, Low... |
ORPHA:319182 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Decreased response to growth hormone stimulation test, Premature thelarche, Cleft soft palate, Ab... |
ORPHA:268261 |
Acromelic Frontonasal Dysostosis |
|
U-Shaped upper lip vermilion, Optic nerve hypoplasia, Periventricular nodular heterotopia, Cleft ... |
OMIM:603671 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Par... |
OMIM:214800 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hyp... |
ORPHA:251510 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:90796 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pseudohypoparat... |
ORPHA:94089 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Posteriorly rotated ears, Decreased response to growth hormo... |
ORPHA:506358 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Fair hair, Abnormal dental morphology, Decreased response to growth... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Fair hair, Abnormal dental morphology, Decreased response to growth... |
ORPHA:363958 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Abnormality of the dentition, Adrenal in... |
ORPHA:231226 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Exaggerated cupid's bow, Micrognathi... |
ORPHA:709 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... |
ORPHA:99413 |
Turner Syndrome |
|
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... |
ORPHA:881 |
Mosaic Monosomy X |
|
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... |
ORPHA:99228 |
Monosomy X |
|
Micrognathia, High, narrow palate, High palate, Hashimoto thyroiditis, Premature ovarian insuffic... |
ORPHA:99226 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Generalized hyperpigmentation, Adrenal calcification, Adren... |
ORPHA:289548 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Generalized hyperpigmentation, Elevated circulating luteini... |
ORPHA:168558 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Patent ductus arteriosus, Cryptorch... |
OMIM:620005 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Th... |
ORPHA:391487 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... |
ORPHA:699 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Malar prominence, Abnormality of the dentition, Adrenal in... |
ORPHA:231214 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, High, narrow p... |
OMIM:613406 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... |
ORPHA:96179 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Dental malocclu... |
ORPHA:1855 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the ear, Downturned corners... |
ORPHA:3455 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test |
OMIM:617784 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Stomatitis, Elevated circulating growth hormone conc... |
ORPHA:97280 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
OMIM:619503 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Cryptorchidism, Patent ductus arteriosus, B lymphoc... |
ORPHA:79324 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroidi... |
ORPHA:449563 |
46,Xx Sex Reversal 1 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... |
OMIM:400045 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... |
OMIM:149730 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, Cholelithiasis,... |
ORPHA:83617 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Hypothyroidism |
ORPHA:30391 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatitis, Anemia |
OMIM:300755 |
Testicular Agenesis |
|
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... |
ORPHA:325124 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... |
ORPHA:64 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Hypoplasia of th... |
OMIM:180500 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis, Prostatitis, Panc... |
ORPHA:449395 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Precocious puberty, Patent ductus arteriosus, Cryptorchidism... |
ORPHA:438213 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... |
OMIM:619381 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Decreased response to growth hormone stimulation test |
ORPHA:470 |