Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... |
OMIM:153600 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro... |
OMIM:133180 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia |
OMIM:252270 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... |
OMIM:612781 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia |
OMIM:246470 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... |
OMIM:620303 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Hereditary Geniospasm |
|
EEG abnormality, Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis |
OMIM:616871 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... |
OMIM:614470 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Myeloid leukemia, Aplastic anemia, Leukemia |
OMIM:614743 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia |
ORPHA:98827 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Abnormal social behavior, Seizure |
ORPHA:436151 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Centr... |
OMIM:612079 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Failure to thrive, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
N Syndrome |
|
Leukemia, Neoplasm |
OMIM:310465 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... |
OMIM:601399 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Myelodysplasia, Acute leukemia |
OMIM:185050 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:67045 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia of inadequate pro... |
ORPHA:75564 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612702 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Failure to thrive, Anemia |
OMIM:619151 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Decreased bod... |
OMIM:616185 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Small pituitary gland, Decreased response to growth... |
OMIM:619476 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... |
ORPHA:98849 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... |
ORPHA:486 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
Septooptic Dysplasia |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:182230 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... |
ORPHA:398079 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... |
ORPHA:739 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatospleno... |
ORPHA:98850 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:2232 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... |
OMIM:616030 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Leukemia, Meningioma |
OMIM:602501 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Xerostomia, Increase... |
ORPHA:398069 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Abno... |
ORPHA:391417 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism |
OMIM:616784 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Inability to walk, Seizure, Irritability, Sta... |
OMIM:617864 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ele... |
OMIM:618187 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Oliver-Mcfarlane Syndrome |
|
Small for gestational age, Hypogonadotropic hypogonadism, Decreased response to growth hormone st... |
OMIM:275400 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... |
ORPHA:99867 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Cryptorchidism, Small pituitary gland, Umbilic... |
ORPHA:93932 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... |
OMIM:615849 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Myeloid leukemia, Anemia |
OMIM:614742 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test |
ORPHA:1261 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co... |
ORPHA:309246 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration |
OMIM:223360 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Hypohidrosis, Abnormal... |
ORPHA:3157 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, ... |
ORPHA:71493 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... |
OMIM:614897 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia |
ORPHA:3318 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Failure to thrive, Decreased response to growth hormone stimulation test |
OMIM:245590 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G... |
ORPHA:163985 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B... |
OMIM:616005 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... |
OMIM:618086 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Attention deficit hyperactiv... |
ORPHA:64280 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia |
ORPHA:281090 |
Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Myelodysplasia, Acute lymphoblastic leukemia, Failure to... |
OMIM:606593 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... |
OMIM:300148 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidi... |
OMIM:613457 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia |
OMIM:201400 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Irritabilit... |
OMIM:616881 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... |
ORPHA:1827 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia |
ORPHA:90033 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... |
ORPHA:309263 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Myelodysplasia |
ORPHA:48104 |
Ataxia-Telangiectasia |
|
Lymphopenia, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, T lymphocytopenia, Hypopla... |
OMIM:208900 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Deeah Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:619004 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Hypogonadotropic hypogonadism, Female hypogonadism, Delayed mena... |
ORPHA:52901 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... |
OMIM:615723 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... |
ORPHA:309271 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Seizure, Dementia, Myoclonus, Semantic dementia, Memory impairment, Abnormal s... |
ORPHA:1020 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Myelodysplasia, Thrombocytopenia... |
OMIM:260400 |
Rhyns Syndrome |
|
Anterior hypopituitarism, Reduced circulating growth hormone concentration, Decreased response to... |
OMIM:602152 |
Kearns-Sayre Syndrome |
|
Anterior hypopituitarism |
ORPHA:480 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
Hypertriglyceridemia 1 |
|
Hypopituitarism |
OMIM:145750 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Inguinal hernia, Adrenal hypoplasia, Large for gestational age, Precocious pu... |
ORPHA:672 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Seizure, Exaggerated startle response, Dementia |
OMIM:272800 |
Lig4 Syndrome |
|
Leukocytosis, Lymphoma, Pancytopenia, Acute leukemia |
ORPHA:99812 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Tatton-Brown-Rahman Syndrome |
|
Myeloid leukemia, Neuroendocrine neoplasm, Obesity |
ORPHA:404443 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Polycythemia Vera |
|
Splenomegaly, Acute leukemia, Myelodysplasia, Weight loss |
ORPHA:729 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... |
OMIM:300607 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... |
ORPHA:125 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Small pituitary gland |
OMIM:619479 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... |
ORPHA:3243 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Anterior hypopituitarism, Camptodactyly of finger |
ORPHA:2863 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch... |
OMIM:608643 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight |
OMIM:618347 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227645 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Small for gestational age, Myelodysplasia, Squamous cell carcinoma, Basal cell c... |
ORPHA:221008 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Myeloproliferative disorder |
ORPHA:100924 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Small for gestational age, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Ba... |
ORPHA:221016 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Status epilepticus, Myoclonus |
OMIM:618201 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Small for gestational age, Myelodysplasia, Squamous cell carcinoma, Basal cell c... |
ORPHA:2909 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia |
OMIM:619951 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
Rhyns Syndrome |
|
Hypopituitarism |
ORPHA:140976 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia |
OMIM:613224 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphoma, Leukemia, Monoclonal immun... |
ORPHA:33226 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Typical absence se... |
ORPHA:845 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Cachexia, Rhabdomyosarcom... |
ORPHA:647 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait,... |
ORPHA:309256 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Leukemia |
OMIM:210900 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Small for gestational age, Embryonal rhabdomyosarcoma, Leukemia |
OMIM:257300 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio... |
ORPHA:199299 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Myoclonic seizure, Seizure, Dementia, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Seizure, Depression |
OMIM:620114 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Seizure, Dystonia |
ORPHA:438216 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Cryptorchi... |
ORPHA:464306 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee f... |
OMIM:151050 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Myelodysplasia, Erythro... |
ORPHA:124 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Pituitary hypothy... |
ORPHA:90674 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow... |
OMIM:619503 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Lipodystrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, Failure to ... |
OMIM:618922 |
African Trypanosomiasis |
|
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... |
ORPHA:3385 |
Myasthenic Syndrome, Congenital, 22 |
|
Decreased response to growth hormone stimulation test |
OMIM:616224 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Tremor, EEG with burst suppression, Clonic seizure, Simplified gyra... |
OMIM:615574 |
Simple Cryoglobulinemia |
|
B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Monoclonal immunoglob... |
ORPHA:91139 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227646 |
Boomerang Dysplasia |
|
Omphalocele, Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... |
ORPHA:906 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoc... |
OMIM:617281 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Failure to thrive, Small for gestational age, Decreased response to growth hormon... |
OMIM:609757 |
Down Syndrome |
|
Obesity, Acute megakaryocytic leukemia |
ORPHA:870 |
4H Leukodystrophy |
|
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
ORPHA:289494 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:363528 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:606407 |
14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothalamu... |
ORPHA:264200 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Progressive psychomotor det... |
OMIM:268800 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test |
OMIM:618624 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Focal ... |
OMIM:618056 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Overweight, Decreased response to growth hormone stimulation test |
ORPHA:457240 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Myelodysplasia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:3260 |
Juberg-Hayward Syndrome |
|
Decreased response to growth hormone stimulation test |
OMIM:216100 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Generalized-onset seizure, Abnormal cortical gyration, Seizure, Cog... |
OMIM:617527 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test |
ORPHA:79323 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
ORPHA:478 |
Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
Silver-Russell Syndrome 1 |
|
Testicular seminoma, Small for gestational age, Decreased response to growth hormone stimulation ... |
OMIM:180860 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contra... |
OMIM:181450 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Failure to thrive, Hypohidrosis |
ORPHA:98813 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypopituitarism, Failure to thrive, Delayed puberty |
OMIM:600462 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Decreased response to growth hormone stimulation test, Adrenal hypoplasia |
OMIM:614732 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... |
ORPHA:280679 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Abnormal cortical gyration, Hypsarrhythmia, Seizure, Dystonia, Fail... |
ORPHA:521426 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus |
ORPHA:309155 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism |
OMIM:619013 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... |
ORPHA:466791 |
Cohen Syndrome |
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Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... |
OMIM:216550 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Myoclonic spasms, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity, Tonic seizure, Seizure, Irritab... |
OMIM:618367 |
Hyperekplexia 1 |
|
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures |
OMIM:149400 |
Noonan Syndrome 2 |
|
Leukemia |
OMIM:605275 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test |
ORPHA:436174 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Congenital hypoparathyroidism, Decreased response to growth hormone stimulation t... |
OMIM:241410 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Lymphoma, Acute lymphoblastic leukemia, Neoplasm, A... |
ORPHA:235 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
16P12.1P12.3 Triplication Syndrome |
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Bilateral cryptorchidism, Failure to thrive, Decreased response to growth hormone stimulation test |
ORPHA:485405 |
Ellis Van Creveld Syndrome |
|
Failure to thrive, Acute leukemia |
ORPHA:289 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Congenital adren... |
OMIM:618336 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Small for gestational age, Papillary cystadenoma of the epididymis, Truncal obe... |
OMIM:180849 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Thro... |
OMIM:305000 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Splenomegaly, Juvenile myelomonocytic leukemia, Failure to thrive, Hepatosplenomegaly |
OMIM:613563 |
Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr... |
ORPHA:1052 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:101800 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Abnormal cortical gyration, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, M... |
ORPHA:314647 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:147250 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Dysgyria, Myoclonic seizure |
OMIM:620327 |
Acrootoocular Syndrome |
|
Failure to thrive, Small for gestational age, Decreased response to growth hormone stimulation te... |
ORPHA:2980 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Aplastic anemia |
OMIM:223370 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Pseudohypoparathyroidism Type 1B |
|
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elevated circula... |
ORPHA:94089 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Failure to thrive in infancy, Nephroblastoma, Ependymoma, Teratoma, Hepa... |
ORPHA:798 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight |
OMIM:609053 |
Isolated Biliary Atresia |
|
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive... |
ORPHA:30391 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Cryptorchidism, Aplasia of the right hemidiaphragm, Anterior pituitary hypoplasia |
OMIM:619841 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Agyria, Seizure, Lissencephaly, Pachygyria, Polymicrogyria, Type II... |
OMIM:253800 |
Cryptococcosis |
|
Lymphoid leukemia, Neoplasm |
ORPHA:1546 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Snakebite Envenomation |
|
Hypopituitarism |
ORPHA:449285 |
Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus |
OMIM:614619 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm, Obesity |
ORPHA:70591 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Adrenal hypoplasia |
OMIM:220210 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... |
ORPHA:231226 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Pycnodysostosis |
|
Overweight, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone st... |
ORPHA:763 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Delayed puberty, ... |
OMIM:619234 |
Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test |
OMIM:601853 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Acute lymphoblastic leukemia, Large for gestational age |
OMIM:280000 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Hyperhidrosis |
OMIM:615280 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Down Syndrome |
|
Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
Frontorhiny |
|
Pericallosal lipoma, Hypopituitarism, Diabetes insipidus, Camptodactyly of finger |
ORPHA:391474 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Anterior pituitary hypoplasia, Bile duct proliferation, Neonatal death, Failure ... |
OMIM:619534 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Adrenal insufficiency, Delay... |
ORPHA:231214 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test |
OMIM:617784 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Decreased body weight |
ORPHA:314621 |
Microform Holoprosencephaly |
|
Hypothyroidism, Panhypopituitarism, Maternal diabetes |
ORPHA:280200 |
Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... |
OMIM:601808 |
Meier-Gorlin Syndrome 6 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
OMIM:616835 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Aicardi-Goutières Syndrome |
|
Enchondroma, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly |
ORPHA:51 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia |
OMIM:609942 |
Poland Syndrome |
|
Retinal hamartoma, Neoplasm of the breast, Acute leukemia |
ORPHA:2911 |
Holoprosencephaly |
|
Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Congenital diaphragmatic hernia, Cr... |
ORPHA:2162 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Bilateral cryptorchidism, Contractures of the large joints, Hypothyroidism, Decreased response to... |
ORPHA:96179 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
Borjeson-Forssman-Lehmann Syndrome |
|
EEG abnormality, Seizure, Obesity |
OMIM:301900 |
Noonan Syndrome 1 |
|
Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to... |
OMIM:163950 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... |
ORPHA:293987 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Failure to thrive, Decreased response to growth hormone stimulation test |
OMIM:603467 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Gm1 Gangliosidosis Type 1 |
|
Seizure, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal dental enamel morphology, Xerosto... |
ORPHA:1896 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Cryptorchidism, Hypopituitarism, Lipoma |
OMIM:603671 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:602782 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Flexion contracture, Decreased response to growth hormone stimulat... |
OMIM:616007 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy... |
ORPHA:77293 |
17Q24.2 Microdeletion Syndrome |
|
Truncal obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... |
ORPHA:529962 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... |
ORPHA:488632 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp... |
ORPHA:2968 |
Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:1855 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Prostatitis, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:307200 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test... |
ORPHA:268261 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Inguinal hernia, Decreased response to growth hormone stimulation test, Supernumerary nipple, Lar... |
OMIM:213980 |
Wiedemann-Steiner Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test |
ORPHA:319182 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne... |
ORPHA:821 |
Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... |
ORPHA:699 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re... |
ORPHA:3455 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... |
ORPHA:363958 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test |
OMIM:617260 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pineal cyst, Trun... |
OMIM:615873 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cavernous hemangioma of the face, Acute myelomonocytic leukemia, Cavernous hemangioma, Multiple e... |
ORPHA:99646 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:506358 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Epileptic spasm, Exaggerated startle response, Inability to walk, Seizure, Myoc... |
ORPHA:438213 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Omphalocele, Panhypopituitarism |
OMIM:610828 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitar... |
OMIM:607932 |
Hartsfield Syndrome |
|
Cryptorchidism, Gonadotropin deficiency, Diabetes insipidus |
OMIM:615465 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the adrenal glands, Delayed puberty... |
ORPHA:138 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity |
ORPHA:444077 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone stimulation test, ... |
OMIM:129900 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Failure to thrive, Decreased response to growth hormone stimulation test |
ORPHA:470 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:604292 |
Charge Syndrome |
|
Hypoparathyroidism, Omphalocele, Hypogonadotropic hypogonadism, Decreased response to growth horm... |
OMIM:214800 |
Peters Plus Syndrome |
|
Inguinal hernia, Cryptorchidism, Congenital hypothyroidism, Umbilical hernia, Anterior hypopituit... |
ORPHA:709 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Seizure, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:619522 |
Witteveen-Kolk Syndrome |
|
Inguinal hernia, Small for gestational age, Unilateral cryptorchidism, Decreased response to grow... |
OMIM:613406 |
Alström Syndrome |
|
Decreased testicular size, Precocious puberty in females, Decreased response to growth hormone st... |
ORPHA:64 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Decreased response to growth hormone stimulation test |
OMIM:180500 |
Borjeson-Forssman-Lehmann Syndrome |
|
Seizure, Truncal obesity |
ORPHA:127 |