Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Adenohypophysitis |
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Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Panhypophysitis |
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Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor... |
ORPHA:95513 |
Otodental Dysplasia |
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Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,... |
OMIM:166750 |
Otodental Syndrome |
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Abnormality of canine, Carious teeth, Periodontitis, Progressive sensorineural hearing impairment... |
ORPHA:2791 |
Chudley-Mccullough Syndrome |
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Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Partial a... |
OMIM:604213 |
Non-Functioning Pituitary Adenoma |
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Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
Ane Syndrome |
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Carious teeth, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ... |
ORPHA:157954 |
Post-Traumatic Pituitary Deficiency |
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Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... |
ORPHA:95619 |
Functioning Gonadotropic Adenoma |
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Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Weiss-Kruszka Syndrome |
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Low-set ears, Abnormality of the outer ear, Hearing impairment, Decreased response to growth horm... |
ORPHA:502430 |
Endocardial Fibroelastosis |
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Abnormal helix morphology, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Abnor... |
ORPHA:2022 |
Spermatogenic Failure 14 |
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Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
Sheehan Syndrome |
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Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Breas... |
ORPHA:91355 |
Pituicytoma |
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Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
Spermatogenic Failure 13 |
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Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
Spermatogenic Failure, X-Linked, 4 |
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Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
Growth Hormone Deficiency, Isolated Partial |
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Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
48,Xxyy Syndrome |
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Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Decrea... |
ORPHA:10 |
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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Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Secondary growth hormone deficiency, Abnormality of the dentition, Pigmentary retinopathy, Absenc... |
ORPHA:2235 |
Kearns-Sayre Syndrome |
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Anterior hypopituitarism, Abnormality of retinal pigmentation, Hearing impairment |
ORPHA:480 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Ectopic posterior pituitary, Macroglossia, Hypopituitarism, Decreased circulating T4 concentratio... |
ORPHA:226307 |
Amelogenesis Imperfecta |
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Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
Isolated Growth Hormone Deficiency, Type Iv |
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Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... |
OMIM:618157 |
Hypothyroidism, Central, With Testicular Enlargement |
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Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... |
OMIM:300888 |
Meningioma |
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Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... |
ORPHA:2495 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Low-set ears, Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Cry... |
ORPHA:2863 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
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Hypopituitarism, Decreased thyroid-stimulating hormone level, Malar flattening, Decreased circula... |
OMIM:613038 |
Gangliocytoma |
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Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
Pituitary Carcinoma |
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Pituitary gonadotropic cell adenoma, Hearing impairment, Pituitary prolactin cell adenoma, Increa... |
ORPHA:300385 |
Mehmo Syndrome |
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Male hypogonadism, Cleft lip, Long philtrum, Widely spaced teeth, Decreased response to growth ho... |
OMIM:300148 |
Pituitary Hormone Deficiency, Combined, 3 |
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Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Gonadotr... |
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, Sensorineural hearing impairment, Gonadotr... |
ORPHA:231720 |
Dentin Dysplasia, Type I |
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Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
Opticocochleodentate Degeneration |
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Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Oligodontia |
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Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
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Abnormality of the dentition, Hearing impairment, Hypogonadism, Abnormal dental enamel morphology... |
ORPHA:3220 |
48,Xxxy Syndrome |
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Carious teeth, Delayed eruption of teeth, Hypogonadism, Decreased testicular size, Azoospermia, O... |
ORPHA:96263 |
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
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Hypopituitarism, Type II diabetes mellitus, Sensorineural hearing impairment, Reduced circulating... |
OMIM:620651 |
Rhyns Syndrome |
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Hypopituitarism, Hearing impairment |
ORPHA:140976 |
Deafness, Autosomal Dominant 86 |
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Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
Deafness, Autosomal Dominant 44 |
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Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
49,Xxxxy Syndrome |
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Carious teeth, Delayed eruption of teeth, Hypogonadism, Decreased testicular size, Azoospermia, O... |
ORPHA:96264 |
Rapp-Hodgkin Syndrome |
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Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Decreased number of sweat g... |
OMIM:129400 |
Pituitary Apoplexy |
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Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
Smith-Magenis Syndrome |
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Precocious puberty, Conductive hearing impairment, Cleft upper lip, Micrognathia, Open mouth, Ten... |
ORPHA:819 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Perrault Syndrome 1 |
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Cerebellar atrophy, Sensorineural hearing impairment, Primary amenorrhea, Increased circulating g... |
OMIM:233400 |
Triple A Syndrome |
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Optic atrophy, Adrenal insufficiency, Generalized hyperpigmentation, Sensorineural hearing impair... |
ORPHA:869 |
Isolated Growth Hormone Deficiency, Type Ib |
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Decreased response to growth hormone stimulation test, Reduced circulating growth hormone concent... |
OMIM:612781 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
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Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Decrea... |
ORPHA:436174 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches... |
ORPHA:3214 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... |
ORPHA:95494 |
X-Linked Intellectual Disability, Van Esch Type |
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Male hypogonadism, Retrognathia, Absence of secondary sex characteristics, Decreased testicular s... |
ORPHA:163976 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Eec Syndrome |
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Carious teeth, Xerostomia, Tooth agenesis, Decreased response to growth hormone stimulation test,... |
ORPHA:1896 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Pseudohypoparathyroidism Type 1A |
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Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... |
ORPHA:79443 |
Snijders Blok-Campeau Syndrome |
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Low-set ears, Widely spaced teeth, Taurodontia, Enamel hypoplasia, High palate |
OMIM:618205 |
Amelogenesis Imperfecta, Type Ia |
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Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... |
OMIM:600791 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
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Small pituitary gland, Cleft lip, Cryptorchidism, Sensorineural hearing impairment, Hypogonadotro... |
OMIM:612702 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Isolated Growth Hormone Deficiency, Type Ii |
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Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... |
OMIM:173100 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Low-set ears, Retrognathia, Long philtrum, Premature graying of hair, Decreased response to growt... |
ORPHA:280679 |
Joubert Syndrome 26 |
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Cleft lip, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypo... |
OMIM:616784 |
Rhyns Syndrome |
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Conductive hearing impairment, Decreased response to growth hormone stimulation test, Sensorineur... |
OMIM:602152 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:300123 |
Orthostatic Hypotension 1 |
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High palate, Reduced circulating prolactin concentration, Retrograde ejaculation, Orthostatic hyp... |
OMIM:223360 |
Deafness, Autosomal Dominant 9 |
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Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
Deafness, Autosomal Dominant 77 |
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Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
Momo Syndrome |
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Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
Bonnemann-Meinecke-Reich Syndrome |
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Decreased response to growth hormone stimulation test, Micrognathia |
ORPHA:1261 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Recurrent otitis media, Brain atrophy, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Cranioectodermal Dysplasia 4 |
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Protruding ear, Smooth philtrum, Thin vermilion border, Taurodontia |
OMIM:614378 |
Xq21 Microdeletion Syndrome |
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Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... |
ORPHA:1435 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Nance-Horan Syndrome |
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Diastema, Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Macrotia |
OMIM:302350 |
X-Linked Intellectual Disability, Cilliers Type |
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Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... |
ORPHA:163971 |
Trichodentoosseous Syndrome |
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Taurodontia, Microdontia, Widely spaced teeth |
OMIM:190320 |
Tooth Agenesis, Selective, 9 |
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Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
Acrootoocular Syndrome |
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Low-set ears, High, narrow palate, Conductive hearing impairment, Atresia of the external auditor... |
ORPHA:2980 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ... |
OMIM:610706 |
Pituitary Dwarfism With Large Sella Turcica |
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Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:262710 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Low-set ears, Elevated circulating luteinizing hormone level, Retrognathia, Long philtrum, Premat... |
OMIM:300845 |
Panhypopituitarism, X-Linked |
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Panhypopituitarism |
OMIM:312000 |
Perrault Syndrome 3 |
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Elevated circulating luteinizing hormone level, Streak ovary, Sensorineural hearing impairment, E... |
OMIM:614129 |
49,Xxxyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Low-set, posteriorly rotated ears, Decreased t... |
ORPHA:261534 |
Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
46,Xx Gonadal Dysgenesis |
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Decreased serum estradiol, Hearing impairment, Streak ovary, Decreased fertility, Delayed puberty... |
ORPHA:243 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... |
ORPHA:1515 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Decreased response to growth hormone stimulation t... |
OMIM:275400 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Abnormality of the dentition, Pigmentary retinopathy, Decreased response to growth hormone stimul... |
ORPHA:3363 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late... |
ORPHA:1193 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... |
ORPHA:79444 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Progressive sensorineural hearing impairment, Hypoplasia of the ovary,... |
OMIM:615300 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... |
ORPHA:71526 |
Williams-Beuren Region Duplication Syndrome |
|
Diastema, Decreased response to growth hormone stimulation test, Micrognathia, Cryptorchidism, Sh... |
OMIM:609757 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Oculodentodigital Dysplasia |
|
Optic atrophy, Broad alveolar ridges, Carious teeth, Conductive hearing impairment, Hearing impai... |
ORPHA:2710 |
Kallmann Syndrome |
|
Tooth agenesis, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Decrea... |
ORPHA:478 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Hearing im... |
OMIM:174800 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Dental ma... |
ORPHA:199306 |
Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
Cerebellofaciodental Syndrome |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchi... |
OMIM:616202 |
Pallister-Hall Syndrome |
|
Auricular tag, Atresia of the external auditory canal, Natal tooth, Hypopituitarism, Central adre... |
ORPHA:672 |
Hypotonia-Cystinuria Syndrome |
|
Macrotia, Decreased response to growth hormone stimulation test, Tented upper lip vermilion, Faci... |
OMIM:606407 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Low-set ears, Adrenal hypoplasia, Cryptorchidism, Decreased response to growth hormone stimulatio... |
OMIM:614732 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
4H Leukodystrophy |
|
Optic atrophy, Abnormality of the dentition, Cerebellar atrophy, Delayed eruption of teeth, Decre... |
ORPHA:289494 |
Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Carious teeth, Conductive hearing impairment, Selective tooth agenesis, Cl... |
OMIM:164200 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Conductive hearing impairment, Velopharyngeal insufficiency, Peg-shaped maxillary la... |
ORPHA:2751 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Delayed eruption of teeth, Everted upper lip vermilion, Microdontia, Hy... |
ORPHA:181 |
Craniopharyngioma |
|
Optic atrophy, Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism... |
ORPHA:54595 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Dyskeratosis Congenita |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Hearing im... |
ORPHA:1775 |
15Q24 Microdeletion Syndrome |
|
Abnormality of the outer ear, Abnormality of the dentition, Hearing impairment, Long philtrum, Th... |
ORPHA:94065 |
Congenital Syphilis |
|
Optic atrophy, Hearing impairment, Hyperplasia of the maxilla, Pancreatitis, Mulberry molar, Notc... |
ORPHA:499009 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, High palate, Ma... |
ORPHA:457240 |
Cerebellar-Facial-Dental Syndrome |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philt... |
ORPHA:444072 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Stenosis of the external auditory canal, C... |
OMIM:601427 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Low-set ears, Decreased circulating parathyroid hormone level, Bifid uvula, Long philtrum, Decrea... |
OMIM:241410 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Everted lower ... |
ORPHA:534 |
16P12.1P12.3 Triplication Syndrome |
|
Low-set ears, High, narrow palate, Retrognathia, Long philtrum, Bilateral cryptorchidism, Large e... |
ORPHA:485405 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Decreased response to growth hormone stimulation test, Malar flattening, Smooth phi... |
OMIM:601853 |
Joubert Syndrome 38 |
|
Low-set ears, Ectopic posterior pituitary, Small pituitary gland, Downturned corners of mouth, De... |
OMIM:619476 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty |
OMIM:612079 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Optic atrophy, Hypoplasia of the maxilla, Elevated circulating parathyroi... |
OMIM:101800 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Intellectual Disability-Strabismus Syndrome |
|
Low-set ears, Abnormality of the dentition, Hearing impairment, Recurrent otitis media, Decreased... |
ORPHA:363528 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Hippocampal atrophy, Decreased response... |
OMIM:618922 |
47,Xyy Syndrome |
|
Low-set ears, Azoospermia, Cryptorchidism, Malar flattening, Increased serum testosterone level, ... |
ORPHA:8 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Hearing impairment, Absence of secondary sex ch... |
ORPHA:2232 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... |
OMIM:618459 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Low-set ears, Notched primary central incisor, Hydrocele testis |
OMIM:620062 |
Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Decr... |
ORPHA:763 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Schimke Immuno-Osseous Dysplasia |
|
Multiple lentigines, Abnormality of thyroid physiology, Microdontia, Abnormal primary molar morph... |
ORPHA:1830 |
Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Low-set ears, Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Mi... |
OMIM:618336 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Posterior pituitary hypoplasia, Abnormality of the anterior pituitary, Everted low... |
ORPHA:75389 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
OMIM:610978 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Conical tooth, Recurrent otitis media, Hypopituitarism, Recurrent sinusitis, Hypohidrosis |
ORPHA:98813 |
Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Decreased response to growth hormone stimulation test, Micrognathia, Adrenal hypopl... |
OMIM:220210 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent otitis media, Decreased response to growth hormone stimulation test, Central adrenal in... |
OMIM:615577 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Low-set ears, Delayed eruption of teeth, Decreased response to growth hormone stimulation test, O... |
OMIM:615866 |
Frontorhiny |
|
Hypoplasia of the maxilla, Low-set, posteriorly rotated ears, Hypopituitarism, Congenital conduct... |
ORPHA:391474 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response... |
ORPHA:293978 |
Mpdu1-Cdg |
|
Optic atrophy, Decreased response to growth hormone stimulation test, Prominent frontal sinuses, ... |
ORPHA:79323 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Progressive hearing impairment, Decreased response to growth hormone stimulation test, Oligodonti... |
OMIM:619234 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Downturned corners of mouth, Decreased response to growth hormone stimulation... |
OMIM:618347 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Patent ductus arteriosus, Ectopic anterior pituitary gland |
OMIM:620558 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Vertigo, Optic disc pallor, Severe sensorineural hearing impairment, Abnor... |
OMIM:614195 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism, Perisylvian polymicrogyria |
ORPHA:280195 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Somatomammotropinoma |
|
Broad jaw, Abnormality of the dentition, Mandibular prognathia, Impotence, Pituitary adenoma, Pit... |
ORPHA:314769 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... |
OMIM:610755 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... |
ORPHA:64744 |
Chromosome 18Q Deletion Syndrome |
|
Optic atrophy, Bifid uvula, Mandibular prognathia, Conductive hearing impairment, Atresia of the ... |
OMIM:601808 |
Duplication Of The Pituitary Gland |
|
Hearing impairment, Retrognathia, Abnormal hypothalamus morphology, Supernumerary tooth, Wide mou... |
ORPHA:314621 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Pallister-Hall-Like Syndrome |
|
Microglossia, Micrognathia, Median cleft upper lip, Hypothalamic hamartoma, Anterior hypopituitar... |
OMIM:241800 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Type I diabetes mellitus, Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count,... |
OMIM:620430 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Deeah Syndrome |
|
Low-set ears, Narrow palate, Hearing impairment, Long philtrum, Retrognathia, Decreased response ... |
OMIM:619004 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Cupped ear, Female infertility, Amenorrhea, Increased circulating gonadot... |
OMIM:110100 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Hearing impairment, Recurrent otitis media, Decreased response to growth hormone stimulation test... |
OMIM:307200 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count |
OMIM:613493 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... |
OMIM:609734 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Underdeveloped tragus, Cryptorchidism, Bilateral cleft palate, Shor... |
OMIM:610829 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Cohen Syndrome |
|
High, narrow palate, Optic atrophy, Hypoplasia of the maxilla, Macrodontia of permanent maxillary... |
OMIM:216550 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Mandibular prognathia, Global brain atrophy, Widely spaced primary teeth, Panhypopituitarism, Dec... |
OMIM:300953 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Low-set ears, Hearing impairment, Decreased response to growth hormone stimulation test, Microgna... |
OMIM:614114 |
Hypertriglyceridemia 1 |
|
Hypopituitarism |
OMIM:145750 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Hypothyroid... |
OMIM:609053 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... |
ORPHA:199299 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Diastema, Microdontia, Deep philtrum, Talon cusp, Bilateral sensorineural hearing ... |
OMIM:605282 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Delayed puberty, Anterior hypopituitarism |
ORPHA:631 |
Nelson Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... |
ORPHA:199244 |
Immunodeficiency 48 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
Acromegaly |
|
Broad jaw, Abnormality of the dentition, Mandibular prognathia, Impotence, Pituitary prolactin ce... |
ORPHA:963 |
Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... |
OMIM:182230 |
Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Widely spaced teeth, Hypopituit... |
OMIM:300942 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Delayed ... |
OMIM:614963 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:98754 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... |
OMIM:619824 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Conductive hearing impairment, Decreased response to growth hormone stimulatio... |
OMIM:616835 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:177901 |
Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... |
OMIM:607594 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Absent nipple, Conical tooth, Everted... |
OMIM:305100 |
Temple Syndrome |
|
Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Few cafe-... |
ORPHA:254516 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:98793 |
Myasthenic Syndrome, Congenital, 22 |
|
Decreased response to growth hormone stimulation test, Tented upper lip vermilion |
OMIM:616224 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... |
OMIM:301078 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:177904 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Abnormality of circulating cortisol level, Abnormality of ren... |
ORPHA:3385 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Hyperparathyroidism, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
Srd5A3-Cdg |
|
Optic atrophy, Cerebellar atrophy, Spotty hyperpigmentation, Decreased response to growth hormone... |
ORPHA:324737 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur... |
ORPHA:1501 |
Alstrom Syndrome |
|
Irregular menstruation, Abnormality of the dentition, Pigmentary retinopathy, Progressive sensori... |
OMIM:203800 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cerebral cortical atrophy, Long philtrum, Decreased response to growth hormone stimulation test, ... |
OMIM:616007 |
Monosomy 18Q |
|
Secondary growth hormone deficiency, Mandibular prognathia, Bilateral conductive hearing impairme... |
ORPHA:1600 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal... |
OMIM:606367 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Low-set ears, Decreased response to growth hormone stimulation test, Wide mouth, Smooth philtrum,... |
OMIM:617260 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Premature adrenarche, Abnormality of the outer ear, Precocious puberty, High, narrow palate, Dent... |
ORPHA:96182 |
Prader-Willi Syndrome |
|
Premature adrenarche, Xerostomia, Periodontitis, Central adrenal insufficiency, Cryptorchidism, P... |
ORPHA:739 |
Juberg-Hayward Syndrome |
|
Decreased response to growth hormone stimulation test, Cleft upper lip |
OMIM:216100 |
Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:603467 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... |
OMIM:102700 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Crypto... |
ORPHA:138 |
Pallister-Hall Syndrome |
|
Precocious puberty, Microglossia, Natal tooth, Atresia of the external auditory canal, Cleft uppe... |
OMIM:146510 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Absent circulating B cells, Splenomegaly |
OMIM:620282 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Cleft lip, Cupped ear, Decreased response to growth hormone stimulation test, Hashi... |
OMIM:618223 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Cleft upper lip, Hypopituitarism, Hypogonadism, Cryptorchidism, Ante... |
OMIM:615849 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Hearing impairment, Pancreatic hypoplasia, Retrognathia, Decreased resp... |
OMIM:602782 |
Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... |
ORPHA:94089 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism... |
OMIM:614700 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
Holoprosencephaly |
|
Optic atrophy, Hypoplasia of the zygomatic bone, Tooth agenesis, Anterior hypopituitarism, Panhyp... |
ORPHA:2162 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Tbck-Related Intellectual Disability Syndrome |
|
High, narrow palate, Global brain atrophy, Long philtrum, Decreased response to growth hormone st... |
ORPHA:488632 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... |
OMIM:147250 |
Webb-Dattani Syndrome |
|
Retrognathia, Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocortic... |
OMIM:615926 |
Microphthalmia, Syndromic 6 |
|
Low-set ears, Cerebral cortical atrophy, Bifid uvula, Microglossia, Hearing impairment, Retrognat... |
OMIM:607932 |
Hartsfield Syndrome |
|
Low-set ears, Hypoplasia of the frontal bone, Cleft upper lip, Cryptorchidism, Gonadotropin defic... |
OMIM:615465 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Hearing impairment, Selective tooth agenesi... |
OMIM:604292 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Hypopituitarism, Micrognathia, Delayed puberty, High palate |
OMIM:600462 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Multiple lentigines, Hyperhidrosis, Cafe-a... |
OMIM:615280 |
Silver-Russell Syndrome 1 |
|
Downturned corners of mouth, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:180860 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Hypogonadotropic hypogonadism, Delayed ... |
OMIM:619718 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count |
OMIM:613496 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Type I diabetes mellitus, Non-caseating epithelioid cell granulomatosis, Graves disease,... |
ORPHA:227982 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio |
OMIM:618048 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Xerostomia, Selective to... |
OMIM:129900 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimulation test |
OMIM:245590 |
Shwachman-Diamond Syndrome |
|
Abnormality of the outer ear, Carious teeth, Pancreatic hypoplasia, Hearing impairment, Delayed e... |
ORPHA:811 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Low-set ears, Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decrease... |
ORPHA:572333 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Type I diabetes mellitus, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypopla... |
ORPHA:227990 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism |
OMIM:619013 |
Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, Micrognathia, Everted lower lip vermilion, Anterior pituitary hypoplasia, Microdon... |
ORPHA:177907 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Unilateral cleft lip, Panhypopituitarism, Fusion of the left and ri... |
OMIM:610828 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia, Microdontia, Anhidrosis |
OMIM:604625 |
Semilobar Holoprosencephaly |
|
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Bifid uvula, Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:93924 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Hypoplasia of the maxilla, Cleft upper lip, Supernumerary nipple, Recurrent otitis ... |
OMIM:213980 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f... |
ORPHA:67045 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cupped ear, Hearing impairment, Conductive hearing impairment, Downturned corners of mouth, Low-s... |
ORPHA:444077 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
Acromelic Frontonasal Dysostosis |
|
Low-set ears, Cleft upper lip, Hypopituitarism, Periventricular nodular heterotopia, Cryptorchidi... |
OMIM:603671 |
Snakebite Envenomation |
|
Hypopituitarism, Gingival bleeding |
ORPHA:449285 |
Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Carious teeth, Ankyloglossia, Cryptorchidism, Everted lower lip vermilion, High, na... |
OMIM:615873 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
Microform Holoprosencephaly |
|
Panhypopituitarism, Tented upper lip vermilion, Solitary median maxillary central incisor, Orofac... |
ORPHA:280200 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Wiedemann-Steiner Syndrome |
|
Low-set ears, Long philtrum, Decreased response to growth hormone stimulation test, Thin upper li... |
ORPHA:319182 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cerebral cortical atrophy, Hearing impairment, Retrognathia, Widely spaced teeth, Decreased respo... |
ORPHA:268261 |
Acromelic Frontonasal Dysplasia |
|
Hypopituitarism, Median cleft palate, Cryptorchidism, Median cleft upper lip, Anterior pituitary ... |
ORPHA:1827 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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B lymphocytopenia |
OMIM:614069 |
Immunodeficiency 43 |
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Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, Lymphopenia, Crypt... |
OMIM:620005 |
Prader-Willi Syndrome |
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Precocious puberty, Carious teeth, Downturned corners of mouth, Decreased response to growth horm... |
OMIM:176270 |
Charge Syndrome |
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Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hypoparathyroidism,... |
OMIM:214800 |
Dominant Beta-Thalassemia |
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Abnormality of the dentition, Hyperplasia of the maxilla, Hypopituitarism, Malar prominence, Adre... |
ORPHA:231226 |
Isolated Exencephaly |
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Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia |
ORPHA:563612 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Precocious puberty, Optic atrophy, Hypopigmentation of the skin, Hearing impairment, Fair hair, R... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Precocious puberty, Optic atrophy, Hypopigmentation of the skin, Hearing impairment, Fair hair, R... |
ORPHA:363958 |
Peters Plus Syndrome |
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Optic atrophy, Cerebral cortical atrophy, Microtia, second degree, Conductive hearing impairment,... |
ORPHA:709 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
Gabriele-De Vries Syndrome |
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Low-set ears, Abnormality of the dentition, Thick lower lip vermilion, Decreased response to grow... |
ORPHA:506358 |
Pearson Syndrome |
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Pigmentary retinopathy, Hearing impairment, Decreased response to growth hormone stimulation test... |
ORPHA:699 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Primary h... |
ORPHA:391487 |
Beta-Thalassemia Major |
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Abnormality of the dentition, Hyperplasia of the maxilla, Hypopituitarism, Malar prominence, Adre... |
ORPHA:231214 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
Agammaglobulinemia 9, Autosomal Recessive |
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Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Wiedemann-Rautenstrauch Syndrome |
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Low-set ears, Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media,... |
ORPHA:3455 |
Witteveen-Kolk Syndrome |
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Hearing impairment, Hyperplasia of the maxilla, Glue ear, Type II diabetes mellitus, Narrow mouth... |
OMIM:613406 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Chordee, Hypothy... |
ORPHA:96179 |
Ataxia-Telangiectasia |
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Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Alg12-Cdg |
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Cryptorchidism, Decreased serum insulin-like growth factor 1, Thrombocytopenia, B lymphocytopenia... |
ORPHA:79324 |
Autoinflammatory Disease, Systemic, X-Linked |
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Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis |
OMIM:616084 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Low-set ears, Recurrent otitis media, Cleft soft palate, Micrognathia, Cryptorchidism, Narrow mou... |
OMIM:619503 |
Igg4-Related Ophthalmic Disease |
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Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Prostatitis, Pancrea... |
ORPHA:449563 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... |
ORPHA:221139 |
Steinert Myotonic Dystrophy |
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Abnormality of the tongue muscle, Cerebral cortical atrophy, Male hypogonadism, Cholelithiasis, I... |
ORPHA:273 |
Lacrimoauriculodentodigital Syndrome 1 |
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Carious teeth, Cupped ear, Hearing impairment, Lacrimal gland hypoplasia, Xerostomia, Delayed eru... |
OMIM:149730 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, B lymphocytopenia, Se... |
ORPHA:83617 |
Isolated Biliary Atresia |
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Hypopituitarism, Hypothyroidism, Bile duct proliferation, Atretic gallbladder |
ORPHA:30391 |
Agammaglobulinemia, X-Linked |
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Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia |
OMIM:300755 |
Agammaglobulinemia 1, Autosomal Recessive |
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Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Igg4-Related Kidney Disease |
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Sialadenitis, Prostatitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Thy... |
ORPHA:449395 |
Alström Syndrome |
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Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... |
ORPHA:64 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla, Decreased response to growth hormone stimulation test, Oligodontia, Th... |
OMIM:180500 |
Nijmegen Breakage Syndrome |
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T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia |
OMIM:251260 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Hypothyroidism... |
ORPHA:438213 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... |
OMIM:619381 |