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Gene: Scg5 MGI:98289

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Gene Summary

Name:
secretogranin V
Synonyms:
Sgne1,  7B2,  Sgne-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Scg5em1(IMPC)Mbp HOM Early adult 9.63×10-23
decreased thigmotaxis Scg5em1(IMPC)Mbp HOM Early adult 2.95×10-09
increased circulating alkaline phosphatase level Scg5em1(IMPC)Mbp HOM Early adult 3.07×10-05
enlarged spleen Scg5em1(IMPC)Mbp HOM Early adult 0.00
abnormal retina vasculature morphology Scg5em1(IMPC)Mbp HOM   Early adult 6.83×10-06
increased mean corpuscular volume Scg5em1(IMPC)Mbp HOM Early adult 5.32×10-06
increased monocyte cell number Scg5em1(IMPC)Mbp HOM   Early adult 7.19×10-05
decreased anxiety-related response Scg5em1(IMPC)Mbp HOM Early adult 4.07×10-11
increased lean body mass Scg5em1(IMPC)Mbp HOM   Early adult 9.38×10-05
abnormal spleen morphology Scg5em1(IMPC)Mbp HOM Early adult 0.00
abnormal behavior Scg5em1(IMPC)Mbp HOM Early adult 3.12×10-09

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Scg5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Scg5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Increa... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Increased C-peptide level... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizure... ORPHA:276556
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
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
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Xanthomatosis, Acanthosis nigricans, Hepatic steatosis, Generali... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Xanthomatosis, Acanthosis nigricans, Hepatic steatosis, Generalized hirsutism, Abno... ORPHA:2348
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Premature graying of hair, Increased intra... ORPHA:280365
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... ORPHA:100093
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration, Decreased body weight OMIM:616311
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Co... ORPHA:2038
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Insulin-Resistance Syndrome Type A
Subcutaneous nodule, Hyperkeratosis, Type II diabetes mellitus, Delayed puberty, Generalized hirs... ORPHA:2297
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Hypothermia, Cardiomegaly, Pneumo... OMIM:601005
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating creat... OMIM:201475
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia, Polyphagia OMIM:620195
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Seizure, Agitation, Pancreatic islet-cell h... ORPHA:276608
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy ORPHA:52416
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Hypertension, Type II diabetes ... ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Acanthosis nigricans, Hyperglycemia, ... OMIM:604367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemochromatosis, Type 1
Cardiomegaly, Glucose intolerance, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiom... OMIM:235200
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Hypothermia, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:226313
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemi... ORPHA:358
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect, Cryptorchidism, Hypomagnesemia, Seizure, Attention deficit hyperactivi... OMIM:619908
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Endocardial Fibroelastosis
Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Congestive heart failure, Seizure, Endocardial... ORPHA:2022
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Congenital Generalized Lipodystrophy
Adipose tissue loss, Low anterior hairline, Acanthosis nigricans, Hepatic steatosis, Hepatomegaly... ORPHA:528
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations, Type II diabetes mellitu... OMIM:619290
Hemochromatosis, Neonatal
Abnormal bleeding, Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepat... OMIM:231100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Hepatomegaly, Elevated circulating acylcarnit... ORPHA:26791
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... OMIM:223360
Lipodystrophy, Congenital Generalized, Type 1
Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Umbilical hernia, Hirsutis... OMIM:608594
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Me... ORPHA:199241
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, ... ORPHA:37042
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Lipodystrophy, Congenital Generalized, Type 2
Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepa... OMIM:269700
Schizophrenia 15
Hyperactivity OMIM:613950
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Anorexia, Tachypnea, Leukopenia, Recurrent hypoglycemia, Pallor, Hepatomegaly, Leukocytosi... ORPHA:20
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Glucose intolerance, Hepatic steatosis, Alopecia, Increased circulating cortisol level, Hyperaldo... ORPHA:189427
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Flexion contr... ORPHA:75496
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Elevated circulating aspart... OMIM:619048
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Increas... ORPHA:90791
Erythrokeratodermia Variabilis
Macule, Alopecia, Diabetes mellitus, Hypermelanotic macule, Abnormal hair morphology, Erythema, P... ORPHA:317
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycem... ORPHA:329249
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Respiratory insu... OMIM:613845
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concent... ORPHA:263455
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Flexion c... OMIM:619503
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Beta-Thalassemia
Hepatomegaly, Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Abnormal hemo... ORPHA:848
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Hirsutism, Increased circulating ACTH level, Facia... OMIM:219090
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Hepatomegaly, Hyperac... ORPHA:525731
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Temple Syndrome
Few cafe-au-lait spots, Decreased response to growth hormone stimulation test, Precocious puberty... ORPHA:254516
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Xanth... OMIM:151660
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Car... ORPHA:26792
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Depression OMIM:602079
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Dyspnea, Glucose intolerance, Pallor, Abnormality of... ORPHA:75563
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Hypothermia, Elevated circula... ORPHA:159
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Recurrent upper respiratory tract infections, Primar... OMIM:614962
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... OMIM:619644
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy... ORPHA:231226
Prolidase Deficiency
Hepatomegaly, Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnormal fingerna... ORPHA:742
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Bilateral ton... ORPHA:369929
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Hypertension, Increased ... OMIM:615830
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... OMIM:251880
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Seizure, L... OMIM:606407
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Abnormal... ORPHA:79474
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hepatomegaly, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circula... OMIM:617872
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat... ORPHA:231214
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Necrolytic migratory erythema, Increased glucagon le... ORPHA:438274
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Seizure, Hypoglycemia ORPHA:67046
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Hypotension, Attention deficit hyperactivity disorder, Pos... ORPHA:369873
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Thin skin, Attention de... OMIM:617364
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Respiratory distress, Respirat... OMIM:613561
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Respiratory insufficiency, Myoclonic se... OMIM:618329
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper... OMIM:231530
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Neonatal hyperbilirubinemia, Hypothe... ORPHA:90674
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... OMIM:245400
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Seizure, Hypogon... ORPHA:3363
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... ORPHA:90790
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Leigh Syndrome
Respiratory insufficiency, Hepatocellular necrosis, Seizure, Respiratory failure, Abnormal patter... OMIM:256000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... ORPHA:369
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Dry skin,... ORPHA:2584
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple... ORPHA:77260
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Anonychia With Flexural Pigmentation
Macular telangiectasia, Hypermelanotic macule, Abnormal hair morphology, Hyperkeratosis, Alopecia... ORPHA:69125
Colchicine Poisoning
Hyponatremia, Respiratory distress, Alopecia, Myocarditis, Congestive heart failure, Leukocytosis... ORPHA:31824
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Sparse hair, Acanthosis nigricans, Decrease... OMIM:606721
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Adrenal hyperplasia, Hypospadias, Hypoglycemia, Adrenogenital syndrome, Hypertension, Recu... OMIM:201910
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Seizure, Recurrent hypogl... ORPHA:79299
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ... ORPHA:398069
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Acrogeria
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, E... ORPHA:2500
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Uterine rupture, Ecchymosis, Emphysema, Repeated pneumothorace... OMIM:130050
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Retinal dystrophy, Failure ... OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Nail pits, P... OMIM:127550
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Highly arched eyebrow, Abnormal repetitive mannerisms, Crypto... ORPHA:228402
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... OMIM:275400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Hematochezia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail... OMIM:175500
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Polyphagia, Seizure, Attention deficit hyperactivity ... ORPHA:261229
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Seizure, Lymphocytosis, Hepatic steatosis, Generalized hirsutism ORPHA:79087
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Respiratory insufficiency, Seizure, Bradycardia, Left ventricular hypertrophy, Hyper... OMIM:614654
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Supernum... ORPHA:217346
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Elevated circulating th... OMIM:618183
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Aspiration ... ORPHA:94093
Menkes Disease
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Epileptic spasm, Hypot... OMIM:309400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Hepatocellular nec... OMIM:256810
Idiopathic Pulmonary Hemosiderosis
Fever, Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Nodular patter... ORPHA:99931
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Ecchymosis, Leu... ORPHA:96253
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Respiratory distress, Hypoglycemia, Epi... ORPHA:348
Spontaneous Periodic Hypothermia
Hypothermia, Seizure, Pallor, Arrhythmia, Abnormal pattern of respiration ORPHA:29822
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cryptorchidism, Low plasma citrulline, Hyperammonemia, Cutis laxa, Seizure, Hypo... OMIM:219150
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Dry skin,... ORPHA:1660
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Leukopenia, Hy... ORPHA:99826
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... ORPHA:2722
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Elevated circulating c... OMIM:618775
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Respiratory distress, Hypoglycemia, Seizure OMIM:614741
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Aplasia/Hypoplasia of the... ORPHA:261304
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, In... OMIM:300942
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... ORPHA:95619
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Abnormal reproductive system morphology, Congestive heart failure, Abno... ORPHA:70472
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Pancreatoblastoma, Pancreati... ORPHA:99889
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormal pattern of respiration, Congestive heart failu... ORPHA:428
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Small scrotum, Cardiac arrest, Hypothermia, Cryptorchidism, Myoclonus, Ambig... ORPHA:168593
Rabson-Mendenhall Syndrome
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting h... ORPHA:769
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Palmoplan... ORPHA:89838
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:232400
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Apneic episodes in infancy, Hypoglycemia, Hypothermia OMIM:610006
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Seizure, Dec... OMIM:246900
Donohue Syndrome
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Aca... OMIM:246200
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Malignant hyperthermia, Hepatic... OMIM:614921
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa... OMIM:615704
Hypoglycemia, Leucine-Induced
Seizure, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
East Syndrome
Salt craving, Generalized-onset seizure, Seizure, Hypokalemia, Hyperaldosteronism, Increased circ... ORPHA:199343
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Seizure, ... OMIM:620152
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Low-grade fever, Hashimoto thy... ORPHA:199299
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Lipoid Proteinosis Of Urbach And Wiethe
Scarring, Aggressive behavior, Thickened skin, Generalized non-motor (absence) seizure, Hyperkera... OMIM:247100
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... ORPHA:446
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Red... ORPHA:90362
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung mor... ORPHA:50251
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... ORPHA:2169
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Leukopenia, Hypoalbuminemia, Neutropenia, Abnormal bleeding,... ORPHA:292
Schaaf-Yang Syndrome
Impulsivity, Cryptorchidism, Flexion contracture, Seizure, Hypogonadism, Skin-picking, Camptodact... OMIM:615547
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Neo... OMIM:231680
Acute Liver Failure
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Hyperventilation, Abnormal bl... ORPHA:90062
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Seizure, Hypokalemia, Hyperphosphatemia, Increas... OMIM:601198
Kenny-Caffey Syndrome, Type 1
Seizure, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Anemia OMIM:244460
Dermoodontodysplasia
Dry skin, Thin skin, Nail dysplasia, Trichodysplasia OMIM:125640
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism, Respiratory insufficiency ORPHA:2812
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Con... ORPHA:49827
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Pulmonar... OMIM:187300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplastic toenails, In... OMIM:608836
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hy... OMIM:262190
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly... OMIM:209950
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Neon... ORPHA:79237
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level OMIM:612126
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Aplasia/... ORPHA:100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Aggressive behavior, Seizure... OMIM:300148
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec... OMIM:617294
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Heavy Chain Disease
Fever, Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Male infertility, Oral-p... OMIM:219800
H Syndrome
Microcytic anemia, Hernia, Micropenis, Alopecia, Psoriasiform dermatitis, Recurrent pharyngitis, ... ORPHA:168569
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... ORPHA:3453
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... OMIM:603552
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Generalize... OMIM:615559
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79444
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Beta-Ketothiolase Deficiency
Fever, Hepatomegaly, Hypoglycemia, Thrombocytosis, Anorexia, Cough, Leukocytosis, Tachypnea, Hype... ORPHA:134
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Hypothermia, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory a... OMIM:608800
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Restless legs, Alopecia, Generalized-onset seizure OMIM:615604
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Restlessness, Neonatal respiratory distress, Epileptic spasm, Hypog... ORPHA:3006
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Sudden cardiac death, Pericardial effusion, Congestive heart fail... ORPHA:73224
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Hypothermia, Dyspnea, Insulin resistance, El... ORPHA:230
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Mitral va... ORPHA:449291
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Multifocal seizures, Apnea, Hypothermia, Focal motor status epilepticus, Focal-o... OMIM:614498
Sarcoidosis
Heart block, Increased T cell count, Subcutaneous nodule, Ventricular tachycardia, Abnormal lung ... ORPHA:797
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Increased circulating thyroglobulin level, Neonatal hyperbilir... ORPHA:90673
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagne... ORPHA:398063
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Tachyca... OMIM:613327
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Male i... ORPHA:79239
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Abnormal mitochondrial shape... ORPHA:17
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... ORPHA:90064
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair ORPHA:2985
Pituitary Apoplexy
Hyponatremia, Fever, Hypoglycemia, Decreased response to growth hormone stimulation test, Elevate... ORPHA:95613
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia OMIM:114580
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Bilateral tonic-clonic seizure, Fasting hypoglycemia, Hypoinsulinemia, Neonatal hyp... OMIM:240900
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
American Trypanosomiasis
Fever, Hepatomegaly, Splenomegaly, Myocarditis, Localized skin lesion, Congestive heart failure, ... ORPHA:3386
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... ORPHA:85138
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes melli... OMIM:269880
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:212138
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Inguinal hernia, Hypoglycemia, Hypothermia... ORPHA:565
Gitelman Syndrome
Prolonged QT interval, Salt craving, Hypomagnesemia, Ventricular tachycardia, Chondrocalcinosis, ... OMIM:263800
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal panc... ORPHA:2849
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... OMIM:607626
Deafness-Lymphedema-Leukemia Syndrome
Fever, Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutroph... ORPHA:3226
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Seizure, Sparse body hair, Alo... ORPHA:1008
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Polyphagia, External genital hypoplasia, Hypogonadotropic hypogonadism ORPHA:177910
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypospadias, Sparse eyebrow, Dry skin,... OMIM:129400
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hyperkeratosis OMIM:101900
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex... ORPHA:90153
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ... ORPHA:101330
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Adrenal hypoplasia, Myocardial... ORPHA:95409
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Malignant hyperthermia, Thin skin, Sparse hair, Sparse body hair ORPHA:1810
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Mirage Syndrome
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Hypo... OMIM:617053
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Hypoplastic toenails, Absent thumbnail, Seizure, Absent toenail, Absent fingernail, Aplasia cutis... ORPHA:79499
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Xeroderma Pigmentosum
Macule, Conjunctival telangiectasia, Alopecia, Fever, Telangiectasia of the skin, Hypermelanotic ... ORPHA:910
Seckel Syndrome 10
Ventricular hypertrophy, Skin tags, Acute pancreatitis, Diabetes mellitus, Impaired glucose toler... OMIM:617253
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Nicolaides-Baraitser Syndrome
Alopecia, Epileptic spasm, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptor... ORPHA:3051
Werner Syndrome
Myocardial infarction, Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Aplasia... ORPHA:902
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Adrenal hypoplasia, Mitral valve prolapse, Thin skin, Arrhythmia, Br... ORPHA:230839
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Hypoglycemia,... ORPHA:2394
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Kerion Celsi
Fever, Alopecia, Lymphadenopathy ORPHA:499
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity ORPHA:75858
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95512
Omenn Syndrome
Fever, Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Thickened skin, Leukocytosi... ORPHA:39041
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Tbck-Related Intellectual Disability Syndrome
Thick eyebrow, Hyperthyroidism, Ventricular septal defect, Decreased response to growth hormone s... ORPHA:488632
Primary Myelofibrosis
Fever, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Abnormal bleedin... ORPHA:824
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulati... ORPHA:79644
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Hyperkeratosis, Nai... OMIM:618625
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Pallor, Neutropenia, Erythroid hyperplasia, Megaloblastic erythroid hyperplasi... ORPHA:75564
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Patent ductus arteriosus, Tachypnea, ... OMIM:616501
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Enlarged tonsils, Abnormal ... ORPHA:293964
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79443
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Subcutaneous hemorrhag... ORPHA:743
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Premature ovarian insufficienc... ORPHA:2959
Prolactinoma
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Seizure, Decreased fertility in males, ... ORPHA:2965
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Abnorm... OMIM:619013
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Fever, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal... ORPHA:556037
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hepatomegaly, Apnea, Bilateral tonic-clonic seizure, Cardiac conduction abnormality, Hypot... ORPHA:255210
Man1B1-Cdg
Long eyebrows, Abnormal position of hair whorl, Sparse eyebrow, Cutis laxa, Seizure, Long eyelash... ORPHA:397941
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum lepti... OMIM:617885
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Hypokalemia, Status epilepticus, ... OMIM:618314
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythema, Palmoplantar hyperkeratosis, Telangiectasia... ORPHA:158673
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia OMIM:618958
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Seizure, Hypoglycemia ORPHA:35701
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Hyperker... ORPHA:238468
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Focal Dermal Hypoplasia
Acute hepatic failure, Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Abnormality ... ORPHA:2092
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Ventricular septal defect, Hypospadias, Precocious puberty, ... ORPHA:254346
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Meningococcal Meningitis
Fever, Shock, Neonatal respiratory distress, Elevated circulating C-reactive protein concentratio... ORPHA:33475
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Respiratory i... ORPHA:746
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Acanthosis nigricans, Hyperglycemia, Calcinosis, Hepatomegaly, Alopecia, Lip... OMIM:248370
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... OMIM:620085
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Fever, Absent eyebrow, Respiratory distress, Absent nipple, Brittle hair, Sparse eyelashes, Conca... OMIM:305100
Huntington Disease
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Seizure, Abnormal circulating ch... ORPHA:399
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... ORPHA:91347
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Fever, Hepatomegaly, Hypoglycemia, Hyperammonemia, Seizure, Hyperuricemia, Pallor, Myoclonus, Anemia OMIM:246450
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Atrial septal defect, Sparse hair, Patent foramen ovale, Preauricular pit, Tricuspid... OMIM:617506
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ... ORPHA:465508
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Seizure, Dy... OMIM:264470
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Apnea, Thrombocytopenia, Cerebellar hemorrhage, Tachypn... OMIM:606054
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Focal-onset seizure, Pa... ORPHA:98892
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Inguinal hernia, Tricuspid regurgitation, Abnormal... ORPHA:230851
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Adrenocortical Carcinoma
Increased urinary cortisol level, Striae distensae, Diabetes mellitus, Paradoxical increased cort... ORPHA:1501
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, S... OMIM:612780
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Weaver Syndrome
Deep-set nails, Inguinal hernia, Bilateral tonic-clonic seizure, Thin nail, Cryptorchidism, Paten... OMIM:277590
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Hyperammonemia, Car... ORPHA:79312
Macrocephaly-Intellectual Disability-Autism Syndrome
Numerous nevi, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Seizure, Thyroid... ORPHA:210548
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropi... ORPHA:453533
Rheumatic Fever
Macule, Fever, Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Anorexia, Abn... ORPHA:3099
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Seizure, Inappropriate laughter, Polyphagia ORPHA:411515
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypo... OMIM:619991
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Fructose And Galactose Intolerance
Seizure, Hypoglycemia OMIM:229500
Primary Erythromelalgia
Recurrent respiratory infections, Hypothermia, Erythema, Vasculitis, Leukemia ORPHA:90026
Sepsis In Premature Infants
Abnormal mucociliary clearance, Elevated circulating C-reactive protein concentration, Pallor, Ne... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ... OMIM:610768
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Alopecia, Fever, Hemolytic anemia, Prolo... ORPHA:809
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Mac... ORPHA:1775
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic m... ORPHA:79397
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Insulin resistance, Hyperlipidemia, Generalized l... ORPHA:90154
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Apnea, Elevated circulating alanine aminotransferase concentration, L... OMIM:261680
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cr... ORPHA:1812
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hypospadias, Apnea, Neutropenia, Bronchiectasis, Hyperammonemia, Respiratory insuff... OMIM:618253
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Scleroderma OMIM:176100
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Hypoglycemia, Hypothermia, Pulmo... ORPHA:79282
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Self-injurious be... ORPHA:494
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Hypoglycemia, Decreased response to growth hormone stimul... OMIM:615577
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia OMIM:615010
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... OMIM:300438
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Aplasia/Hypoplasia of the skin, Thin skin, Pulmonary embolism ORPHA:745
Glass Syndrome
Restlessness, Hyperactivity, Inguinal hernia, Apnea, Bilateral tonic-clonic seizure, Aggressive b... OMIM:612313
Moynahan Syndrome
Alopecia, Hyperkeratosis, Seizure, Hypogonadism, Sparse hair ORPHA:2574
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Increased... ORPHA:254864
Fibrodysplasia Ossificans Progressiva
Alopecia, Subcutaneous nodule, Respiratory insufficiency, Seizure, Anemia ORPHA:337
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter... ORPHA:860
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy, Seizure, Decreased liver function, Thrombocytopenia ORPHA:67048
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... ORPHA:137675
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Bilateral tonic-clonic seizure, Splenomegaly, Res... ORPHA:139406
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Apnea, Elbow flexion contracture, Pulmonary arteria... OMIM:601559
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Noonan Syndrome 8
Curly hair, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cut... OMIM:615355
Flynn-Aird Syndrome
Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ulcer, Seizure, D... ORPHA:2047
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Apnea, Aspiration pneumonia, Atrial septal defect, Hypothyroidism, Patent ... ORPHA:438213
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypoglycemia, Myoclonus, Anemia OMIM:610090
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Impulsivity, Photosensitive tonic-cl... ORPHA:33069
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... ORPHA:228305
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Fever, Hypoglycemia, Pelvic mass, Vaginal neoplasm, Reduced C-pep... ORPHA:2126
De Barsy Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Ventricular septal defect, Lipodystrophy, Cr... ORPHA:2962
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Dyspareunia, Recurrent respiratory infections, Abnormality of te... ORPHA:1334
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Seizure, Transie... ORPHA:156
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioven... OMIM:160900
Silver-Russell Syndrome 2
Thin skin, Neonatal hypoglycemia OMIM:618905
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Reactive hypoglycemia, Fasting hyperinsulinemia, Generalized non-motor... ORPHA:35878
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Seizure, Ichthy... ORPHA:2850
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Cutis... OMIM:614438
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... OMIM:269920
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Seizure, Pallor, Anorexia ORPHA:79283
X-Linked Agammaglobulinemia
Fever, Alopecia, Sinusitis, Abnormality of the tonsils, Thrombocytopenia, Abnormal lung morpholog... ORPHA:47
Bartter Syndrome, Type 1, Antenatal
Fever, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Lo... OMIM:601678
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Pneumonia, Cryptorchidis... ORPHA:1867
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Episodic tachypnea, Hypera... OMIM:615160
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Bilateral tonic-clonic seizure, Seizure, Generalized myoclonic seizure, Abn... OMIM:616341
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:608779
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... ORPHA:556030
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ... OMIM:608799
Mogs-Cdg
Respiratory distress, Hepatomegaly, Alopecia, Fair hair, Apnea, External genital hypoplasia, Hypo... ORPHA:79330
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Cardiomegaly, Low anterior hairline, Hernia, Atrial ... ORPHA:363705
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen... ORPHA:264580
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse h... OMIM:617303
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Perching Syndrome
Fever, Respiratory distress, Dysphagia, Camptodactyly, Joint contracture OMIM:617055
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
2P21 Microdeletion Syndrome
Hypoglycemia, Seizure, Hypogonadism, Long eyelashes, Hypocalcemia ORPHA:163693
Flynn-Aird Syndrome
Alopecia, Hyperkeratosis, Seizure, Dermal atrophy, Alopecia of scalp OMIM:136300
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Seizure, Brad... OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Respiratory insufficiency, Seizure, Myoclonus, Hypertrophic cardiomyopathy OMIM:618241
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Proteus Syndrome
Epidermal nevus, Splenomegaly, Multiple lipomas, Hyperkeratosis, Nevus, Lipoma, Lymphangioma OMIM:176920
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Self-inju... OMIM:618362
Angelman Syndrome
Hyperactivity, Fair hair, Precocious puberty in females, Generalized myoclonic seizure, Atonic se... ORPHA:72
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... OMIM:131100
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Generalized-onset seizure, Status epilepticus, Hypomagnesemia ORPHA:564178
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Anorexia, Nonproductive cough, Hepatomegaly, Tricuspid ... ORPHA:97287
Porokeratosis Of Mibelli
Hyperkeratosis, Aplasia/Hypoplasia of the skin, Porokeratosis ORPHA:735
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Aggressive behavior, Cryptorch... OMIM:619075
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... OMIM:218700
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hypoglycemia, Cerebellar hemorrhage, ... OMIM:251000
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails, Splenomeg... ORPHA:2930
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Ramon Syndrome
Diabetes mellitus, Telangiectasia of the skin, Abnormal dental enamel morphology, Hyperkeratosis,... ORPHA:3019
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal pulmonary valve m... ORPHA:974
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Focal... OMIM:619046
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Inguinal hernia, Mitral valve prolapse, Mitral regurgitation, Atrophic scar... OMIM:225320
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Congenital Panfollicular Nevus
Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Hypomagnesemia 1, Intestinal
Seizure, Hypocalcemia, Hypomagnesemia OMIM:602014
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Hypothermia, Congestive heart fai... ORPHA:31826
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... ORPHA:45452
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Bardet-Biedl Syndrome 19
Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Pa... OMIM:615996
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hypothyroidism, Hepatic steatosis, Self-mutilation... OMIM:619487
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Hyperammonemia, Myoclonic seizure, Se... ORPHA:254913
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Nail pits, Fine hair, ... ORPHA:978
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Apnea, Adrenal hypoplasia, Hyperkalemia, Seizure, Adrenal insufficiency OMIM:240200
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Ane Syndrome
Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
Trisomy 18P
Highly arched eyebrow, Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Preaur... ORPHA:1715
Fructose-1,6-Bisphosphatase Deficiency
Fever, Hepatomegaly, Tachycardia, Hypoglycemia, Apnea, Dyspnea, Seizure, Hyperventilation OMIM:229700
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Papule OMIM:244850
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Sparse hair, Type I diabetes mellitus, Anterior hypopituitarism, Sparse body hair, ... ORPHA:181
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Hypogonadotropic hypogonadism, Limb joint contract... OMIM:612079
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Seizure, Primary hypothyroidism, Dry skin, Hepatic ... ORPHA:300536
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, D... ORPHA:33543
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Seizure, Hypomagnesemia OMIM:616418
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Neonatal Lupus Erythematosus
Parakeratosis, Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Ne... ORPHA:398124
Cebalid Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Seizure, Polyphagia, Thick eyebrow OMIM:618774
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Thin skin, Tetralogy of Fa... OMIM:613630
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Ventricular septal defect, External genital hypoplasia, ... ORPHA:251028
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Elevated circulating creatine kinase concentration... OMIM:614399
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thickened skin, Skin nodule, Elevated circulating thyroid-stimulating hormone concen... OMIM:601812
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Hypo... ORPHA:1606
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Thin skin, Hernia, Umbilical hernia, Bruising susceptibility ORPHA:75497
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Hereditary Spherocytosis
Fever, Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises,... ORPHA:822
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Abnormal repetitive mannerisms, Aplasia/hy... ORPHA:96121
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Dysphagia ORPHA:261250
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Sparse scalp hair, Recurrent respiratory infections, Cholangitis, Pancreatic cysts,... OMIM:266920
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Dry skin, Low poster... OMIM:613707
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Camptodactyly of finger, Hypopigmented skin patches, Palmoplantar keratoderma, Fingerna... ORPHA:2251
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... OMIM:268020
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... OMIM:600462
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hyperkeratosis, Hypomelan... ORPHA:79399
Aquagenic Palmoplantar Keratoderma
Recurrent sinopulmonary infections, Excessive skin wrinkling on dorsum of hands and fingers, Orth... ORPHA:498359
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Papule ORPHA:1336
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Tuberous Sclerosis Complex
Respiratory distress, Epidermoid cyst, Pancreatic endocrine tumor, Pheochromocytoma, Ungual fibro... ORPHA:805
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Mitral valve prolapse, Atypical scarring of skin, Thin skin, Bruising susceptib... OMIM:225310
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Hypomagnesemia 4, Renal
Seizure, Hypomagnesemia OMIM:611718
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia OMIM:131800
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, P... OMIM:616521
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... ORPHA:1959
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive OMIM:230350
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Normocytic anemia, Epistaxis, Anorexia, Abnorma... ORPHA:33226
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Hypertension, Seizure, Myoclonus, Increased blo... ORPHA:251004
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Luscan-Lumish Syndrome
Aggressive behavior, Irregular menstruation, Polycystic ovaries, Seizure, High anterior hairline,... OMIM:616831
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Skin ulcer, Hype... ORPHA:525
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Cardiomyopathy, Respiratory failure,... ORPHA:445038
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... OMIM:620010
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size, Sparse body hair ORPHA:261483
Alexander Disease
Diabetes mellitus, Sudden cardiac death, Hypothermia, Precocious puberty, Respiratory insufficien... ORPHA:58
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... ORPHA:1979
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Synophrys, Hyperprolinemia, Pulmonary ... OMIM:619064
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... OMIM:256040
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Generalized-onset seizure, Hypospadias, Cryptorchidism, Asthma, Focal-... ORPHA:457485
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Hypogonadism... OMIM:615993
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Female hypogonadism, Premature ovarian in... OMIM:240300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Acute Lung Injury
Shock, Fever, Acute pancreatitis, Respiratory distress, Pneumonia, Elevated circulating C-reactiv... ORPHA:178320
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin, Thickened skin ORPHA:1658
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Palmoplantar k... ORPHA:3162
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:228308
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Dry... ORPHA:2890
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Focal-onset... OMIM:619743
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Heart block, Periauricular skin pits, Erythema, Atrophic scars, ... ORPHA:79100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... ORPHA:90795
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Seizure, Hypogonadism, Joint con... OMIM:608540
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Inguinal hernia, Hypoglycemia, Dysmenorrhea, Hypospadias, Cryptorchidism, Asthma, ... ORPHA:397590
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Thrombocytopenia, Fine hair, Premature graying of hair, Seizure, Intestin... OMIM:612199
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Synophrys, Recurren... OMIM:252920
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Seizure, Thin eyebrow, D... ORPHA:3242
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... OMIM:608013
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini... ORPHA:90368
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Melanocytic nevus,... ORPHA:1882
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Agenesis of pineal gland, Numerous nevi, Abnormal heart valve morphology, Mult... ORPHA:536471
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... ORPHA:99886
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Compulsive behaviors, Atrial ... OMIM:615873
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neopla... ORPHA:97282
Giant Cell Arteritis
Fever, Pericarditis, Alopecia, Diabetes insipidus, Epistaxis, Anorexia, Sudden cardiac death, Abn... ORPHA:397
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... ORPHA:57777
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Fever, Hypoglycemia, Recurrent upper respiratory tract infections, Hyperammonemia, Pancreatitis OMIM:620137
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Seizure, Hyperuricemia, Hypophosp... ORPHA:469
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Nail dystrophy, Ab... ORPHA:89843
Arthrochalasia Ehlers-Danlos Syndrome
Inguinal hernia, Femoral hernia, Scarring, Abnormality of subcutaneous fat tissue, Thin skin ORPHA:1899
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Respiratory distress, Respiratory insufficiency, Increased connective t... ORPHA:238329
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Irritability, Cherry red spot of the macula, Fail... OMIM:228000
Leprechaunism
Recurrent infantile hypoglycemia, Increased circulating renin level, Fasting hypoglycemia, Acanth... ORPHA:508
Citrullinemia Type Ii
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Decreased HDL cholester... ORPHA:247585
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Ventricular septal defect, Hypospadias, Congenital diaphragmatic h... OMIM:617602
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Pallor, Albinism ORPHA:2786
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ... OMIM:610600
Arterial Tortuosity Syndrome
Respiratory distress, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial inf... ORPHA:3342
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp... ORPHA:79133
Ulerythema Ophryogenesis
Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyperkeratosis, Hyperk... ORPHA:3406
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Tenorio Syndrome
Hypoglycemia, Apnea, Raynaud phenomenon, Recurrent pneumonia, Seizure, Syncope, Hypoinsulinemia, ... OMIM:616260
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Achilles tendon contracture, Respiratory distress ORPHA:2596
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dry skin, Dermal at... OMIM:103285
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Elevated circ... OMIM:618805
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Congestiv... ORPHA:367
Kikuchi-Fujimoto Disease
Erythematous macule, Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive prote... ORPHA:50918
Crandall Syndrome
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... ORPHA:202
Bloom Syndrome
Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Recurrent upper respirat... OMIM:210900
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Ichthyosis, Dry skin OMIM:603165
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Polyphagia, Hyperglycemia OMIM:615986
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Gener... ORPHA:289504
Whipple Disease
Anorexia, Myocardial infarction, Cough, Hypothyroidism, Hyponatremia, Hepatomegaly, Mediastinal l... ORPHA:3452
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly OMIM:269840
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism,... OMIM:615542
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Seiz... ORPHA:927
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Premature graying of hair, Intracranial hemorrhage, S... ORPHA:363618
6Q16 Microdeletion Syndrome
Thick eyebrow, Polyphagia, Abnormal temper tantrums ORPHA:171829
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Seizure, Hyperalaninemia OMIM:266150
Familial Atrial Myxoma
Fever, Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Co... ORPHA:615
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidi... ORPHA:66634
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Generalized non-motor (absence) ... OMIM:616033
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Pal... ORPHA:94080
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased c... OMIM:615962
Adnp Syndrome
Respiratory distress, Sparse scalp hair, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dy... ORPHA:404448
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormalit... ORPHA:69735
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... ORPHA:3143
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... OMIM:620300
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Incontinentia Pigmenti
Ridged nail, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Scarring, Leu... OMIM:308300
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Macule, Cardiomegaly, Thrombocytopenia, Jaundice, Ly... ORPHA:858
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contracture, Sparse hair,... OMIM:606242
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Dysphagia, Stillbirth, Camptodactyly, Neonatal de... OMIM:619751
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Seizure, Hypogonadism, Type II diabetes mellitus, Oligomenorrhea, Dysphagia, Type I dia... ORPHA:412057
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Pri... ORPHA:95427
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Early onset absence seizures, External genital hypop... ORPHA:79322
Severe Acute Respiratory Syndrome
Fever, Respiratory failure requiring assisted ventilation, Respiratory distress, Diabetes mellitu... ORPHA:140896
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Ethanolaminosis
Cardiomegaly OMIM:227150
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Abnormal external genitalia, Hypoglycemia, Seizure, Nevus flammeus, Neonatal hypoglycemia ORPHA:231140
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:95494
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... OMIM:614299
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ... OMIM:612350
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Seizure, Decre... ORPHA:541423
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Pancreatitis, Chon... OMIM:145981
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Seizure, Hypogonadism, Adrenal insufficiency,... OMIM:617575
Systemic Lupus Erythematosus 17
Fever, Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, M... OMIM:301080
Patent Ductus Venosus
Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decreased liver functio... OMIM:601466
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Bartter Syndrome, Type 2, Antenatal
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochlo... OMIM:241200
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Epistaxis, Insulin resistance, Hematochezia, Prolonged prothrombin t... ORPHA:96168
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Crypt... ORPHA:2519
Autoimmune Hemolytic Anemia, Warm Type
Fever, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Congestive heart failure... ORPHA:90033
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Babesiosis
Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Depression, Leukopenia, Thrombo... ORPHA:108
Cyclic Vomiting Syndrome
Anorexia, Cardiomyopathy, Seizure, Pallor, Attention deficit hyperactivity disorder OMIM:500007
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Generalized-onset seizure, Elevated circulating creatine kinase concentrati... OMIM:620166
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu... OMIM:300855
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Seizure, Hy... ORPHA:2269
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Dorsocervical fat pad, Synophrys, Low anterior hairline, Fine ha... ORPHA:391408
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ... ORPHA:163596
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, In... ORPHA:168558
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alo... OMIM:264090
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Episodic tachyp... ORPHA:2872
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, T... ORPHA:36234
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Decreased body weight, Thrombocytopenia OMIM:231000
Developmental And Epileptic Encephalopathy 78
Seizure, Status epilepticus, Hypothermia OMIM:618557
Smith-Kingsmore Syndrome
Curly hair, Hypoglycemia, Cryptorchidism, Seizure, Umbilical hernia, Cafe-au-lait spot, Thrombocy... OMIM:616638
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Thin skin, Bruising susceptibility ORPHA:157965
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, ... OMIM:600740
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Abnormality of temperature regulation, Apnea, Abn... ORPHA:667
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Seizure, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypo... ORPHA:5
Deeah Syndrome
Hepatomegaly, Decreased hemoglobin concentration, Abnormality of temperature regulation, Neonatal... OMIM:619004
Johanson-Blizzard Syndrome
Alopecia, Diabetes mellitus, Hypoplasia of penis, Dextrocardia, Abnormal hair pattern, Hypospadia... ORPHA:2315
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Flexion contracture, Elevated circulating phytanic acid concentration, Respiratory insu... OMIM:215100
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... OMIM:606762
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Bleeding with minor or ... ORPHA:79503
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Flexion contracture, Myoclo... OMIM:619383
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis,... ORPHA:79259
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Fever, Hemolytic anemia, Diabetes mellitus, Pneumonia, Respiratory tract infection,... ORPHA:544482
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Depression OMIM:121300
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal bleeding, Ventricular septal ... OMIM:614576
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circula... OMIM:613677
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Multifocal seizures, Hypoglyc... ORPHA:480864
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Inguinal hernia, Highly arched eyebrow, Repetitive compulsive behavior, Cryptorchi... ORPHA:352490
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair ORPHA:1174
Mitochondrial Complex I Deficiency, Nuclear Type 13
Fever, Hepatomegaly, Apnea, Cardiac arrest, Bilateral tonic-clonic seizure, Focal motor seizure, ... OMIM:618235
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad... OMIM:257200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Bila... OMIM:618120
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Bilateral tonic-clonic seizure, Tonic seizure, Bilateral... OMIM:618067
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Exertional dysp... ORPHA:90037
Hypomagnesemia 3, Renal
Seizure, Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia, Polydipsia OMIM:248250
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Long eyelashes, Hypoglycemia, Camptodactyly of finger, Hypogonadotropic hypogonadism ORPHA:48431
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Fine hair, Seizure, Recurrent hypoglycemia, Delayed puberty, Sparse hair, Hypothy... OMIM:616817
Recurrent Respiratory Papillomatosis
Fever, Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obst... ORPHA:60032
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... ORPHA:1143
Costello Syndrome
Deep-set nails, Ventricular septal defect, Abnormal fingernail morphology, Abnormal dental enamel... ORPHA:3071
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplas... ORPHA:142
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Hypospadias, Bilateral cryptorchidism, Seizure, Agitation, Ichthyosis, Micropenis OMIM:618840
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Juvenile Dermatomyositis
Bundle branch block, Elevated circulating creatine kinase concentration, Elevated circulating C-r... ORPHA:93672
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Ventricular septa... OMIM:619418
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Abnormality of the endocrin... ORPHA:166035
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
D-Glyceric Aciduria
Neonatal respiratory distress, Hypoglycemia, Bilateral tonic-clonic seizure, Patent ductus arteri... OMIM:220120
Q Fever
Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho... ORPHA:781
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ... ORPHA:99901
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Apnea, Secundum atrial sept... OMIM:609069
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... ORPHA:3282
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Alg12-Cdg
Redundant skin, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Patent ... ORPHA:79324
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, External genital hypoplasia, Abnormal heart morphology ORPHA:231147
Leprosy
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Epistaxis, Abnormality of the ... ORPHA:548
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morpho... ORPHA:1818
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Myocardial infarction, Hyperhomocystinemia, Mitral valve prolapse,... OMIM:236200
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Adrenal hypoplasia, Cryptorchidis... ORPHA:95496
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Hyperkeratosis, Seizure, Pulmonic stenosis, Webbed neck, A... OMIM:615279
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Seizure, Neonatal death, Hyperalaninemia, Hepatic steatosis OMIM:615918
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly, Respiratory distress, Cardiac arrest, Hypoplastic toenail... OMIM:604377
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Cardiomegaly, Hyperammonemia, Seizure, Dysphagia, Hypertrophic cardio... ORPHA:391428
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Seizure, Myoclonus, Hyp... ORPHA:79279
Shigellosis
Hyponatremia, Fever, Hypoglycemia, Pneumonia, Anorexia, Myocarditis, Peritonitis, Leukocytosis, A... ORPHA:810
Filippi Syndrome
Ambiguous genitalia, Ventricular septal defect, Cryptorchidism, Seizure, Sparse hair, Frontal hir... OMIM:272440
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Hype... OMIM:202110
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss, Hepatomegaly ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormalit... ORPHA:417
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car... OMIM:616483
Wilson Disease
Hepatomegaly, Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Jaundice, Hepa... ORPHA:905
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Tyrosinemia, Type I
Acute hepatic failure, Hypophosphatemic rickets, Hepatomegaly, Ascites, Anemia, Elevated hepatic ... OMIM:276700
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the ... ORPHA:75389
Peripheral Cone Dystrophy
Pallor OMIM:609021
Stiff Skin Syndrome
Aplasia/Hypoplasia of the skin, Lipoatrophy, Thickened skin, Subcutaneous nodule, Lack of skin el... ORPHA:2833
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Seizure, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent forame... ORPHA:89844
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Epidermal nevus, Adrenal hypoplasia, Elevated 8-dehydrocholesterol, Elev... OMIM:308050
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Seiz... OMIM:156200
Pituicytoma
Hypopituitarism, Decreased female libido, Pituicytoma, Decreased response to growth hormone stimu... ORPHA:251623
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Helix Syndrome
Hyperparathyroidism, Hypermagnesemia, Hypokalemia, Polydipsia, Dry skin, Heat intolerance OMIM:617671
Coccidioidomycosis
Urticarial plaque, Respiratory distress, Abnormality of the spleen, Verrucous papule, Abnormality... ORPHA:228123
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Sparse body... ORPHA:79402
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Abnormal bleeding, Congestive heart failure, Thrombocytopenia, Flexion cont... OMIM:616271
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Respiratory insufficiency due to m... ORPHA:486815
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... ORPHA:160
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... ORPHA:97285
Pyruvate Carboxylase Deficiency
Anorexia, Tachypnea, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Seizure... ORPHA:3008
Recon Progeroid Syndrome
Thrombocytopenia, Hyperconvex thumb nails, Absent lower eyelashes, Anemia, Scaling skin, Thin ski... OMIM:620370
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Asthma, Flexion contracture, Absence of subcutaneous fat, Fine hair,... OMIM:601675
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Seizure, Xanthomatosis, Hyperuric... ORPHA:364
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, ... ORPHA:70588
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased HDL cholesterol concentration, Hyp... ORPHA:412
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thickene... OMIM:603554
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Pulmonary embolism, Jaundice, Erupti... ORPHA:444490
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifo... OMIM:613576
Malonyl-Coa Decarboxylase Deficiency
Neonatal respiratory distress, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilat... OMIM:248360
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, ... OMIM:208050
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Heart mur... OMIM:617600
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopeni... OMIM:619488
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Hypoglycemia, Hyperlipidemia, Del... OMIM:232200
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Palm... OMIM:618373
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Seizure, Focal dermal aplasia/hypoplasia OMIM:164180
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Ventricular septal defect, Sparse eyebrow, Hypoplastic labia major... OMIM:244450
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Tularemia
Fever, Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, ... ORPHA:3392
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contra... OMIM:151050
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Alopecia, Sparse eyelashes, Sparse scalp hair, Inguinal hernia, Ag... ORPHA:544488
Chilblain Lupus
Raynaud phenomenon, Asthma, Skin ulcer, Chronic myelomonocytic leukemia, Hyperkeratosis, Erythema... ORPHA:90280
Acquired Ichthyosis
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin, Papule ORPHA:454
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Abnormal odontoid tissue morphology ORPHA:401911
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Li-Campeau Syndrome
Ventricular septal defect, Cryptorchidism, Hypothyroidism, Patent ductus arteriosus, Seizure, Atr... OMIM:619189
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis,... ORPHA:79395
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... ORPHA:2325
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Optic Atrophy 1
Pallor OMIM:165500
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Nipah Virus Disease
Fever, Respiratory distress, Anorexia, Recurrent pharyngitis, Seizure, Myoclonus, Hypotension, Cough ORPHA:99825
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Facial telangiectasia, Sparse hair, Aplasia... ORPHA:50944
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu... ORPHA:98908
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormal fingernail morphology, Pen... ORPHA:79145
Malaria
Fever, Respiratory distress, Elevated circulating C-reactive protein concentration, Anemia, Hyper... ORPHA:673
Hypomagnesemia 2, Renal
Seizure, Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Splenomegaly, Type II diabetes mell... ORPHA:1133
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Hypertrichosis, Seizure... OMIM:617190
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Respiratory failure, Seizure, Stillbirth, Decreased liver function,... OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Hypertrophi... OMIM:220110
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Hypos... ORPHA:500159
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Cervical neoplasm, Hypercalc... ORPHA:653
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Camptodactyly of finger, A... ORPHA:920
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Lujo Hemorrhagic Fever
Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Nonproduct... ORPHA:319213
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Preauricular pit, Sacral dimple, Cryptorchidism, Sparse hair, Umbilical hernia OMIM:273390
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Leigh Syndrome
Alopecia, Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Infantile spasms,... ORPHA:506
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... OMIM:616050
Incontinentia Pigmenti
Abnormal toenail morphology, Abnormality of the nail, Alopecia, Abnormal fingernail morphology, A... ORPHA:464
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Seizure, Joint contracture, Focal tonic seizure OMIM:617977
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Fine hair, Long eyelashes, Labial hypoplasia, High anterior hairline ORPHA:231137
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... ORPHA:100924
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Cryptorchidism, Abnormality of the pancreas, Subcutaneous no... ORPHA:1555
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Seizure, Agi... ORPHA:85282
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior hairline, H... ORPHA:73272
Cholera
Hyponatremia, Fever, Tachycardia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Seiz... ORPHA:173
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Decreased serum leptin, L... OMIM:614008
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Erythema, Leukonychia, Hyperkerat... OMIM:615821
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Hypoalbuminemia, Hernia, Atrial septal def... ORPHA:505248
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... OMIM:277900
Pachyonychia Congenita
Respiratory distress, Alopecia, Epidermoid cyst, Paronychia, Onychogryposis of toenails, Linear a... ORPHA:2309
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... ORPHA:100085
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorc... ORPHA:1194
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Cough, Neutropenia, Macule, Sudden cardiac death, Sk... ORPHA:537
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Respiratory distress, Abnormal circulating calcium-phosphate regulating hormo... ORPHA:50810
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio... ORPHA:329178
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Preauricular pit, Alopecia, Hyperpigmented papule, Flexion contracture, Mitral regurgitation, Cam... ORPHA:88630
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Cryptorchidism, Low posterior hairli... OMIM:613224
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... ORPHA:79159
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms, Hepatomegaly OMIM:615637
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small scrotum, Hypoglycemia, Hypospadias, Cryptorchidism, Patent ductus art... OMIM:607143
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Sparse hair, Atrial septal defect, Dystrophic fingernails, Abnormal... ORPHA:1340
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia, Cutis laxa, Ichthyosis, Hyperkeratosis, Dysphag... OMIM:612379
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Synophrys, Widow's peak, Seizure, Thin skin, Thin eyebrow, Bruxism, Cafe-au-lait spot, Stereotypi... OMIM:617804
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos... ORPHA:98907
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Respirat... ORPHA:536467
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Keutel Syndrome
Recurrent respiratory infections, Alopecia, Ventricular septal defect, Pulmonary artery stenosis,... ORPHA:85202
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... ORPHA:90291
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Generalized-onset seizure, Respiratory insufficiency due to muscle weakness... ORPHA:254875
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Periarticular subcutaneous nodules, Thick eyebrow, Decreased response to growth hormone stimulati... ORPHA:436174
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, ... ORPHA:289916
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Right ventricular di... ORPHA:369840
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... OMIM:611126
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia, Ventricular septal defect, Generalized hirsutism ORPHA:1918
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenit... ORPHA:96181
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Decreased serum iron, Chronic hepatitis, Uncombable hair, Cirrhosis, ... OMIM:614602
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Elevated circulating creatine kinase concentration, Thick hair, Primary amenorrh... OMIM:617675
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia, Respiratory insufficiency ORPHA:6
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Hyposp... OMIM:618316
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Camptodactyly of finger, Abnormal preputium morphology, Erythema, Hyp... ORPHA:2907
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, Elevated circ... OMIM:615042
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... ORPHA:276621
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Panhy... ORPHA:2162
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy... OMIM:304790
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... OMIM:616878
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Griscelli Syndrome Type 2
Fever, Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidem... ORPHA:79477
Irida Syndrome
Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich... ORPHA:209981
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Recu... OMIM:618493
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Subcutaneous nodule, Atrioventricular... ORPHA:324
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Thin skin, Respiratory insufficiency OMIM:166210
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, An... ORPHA:2131
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... OMIM:269200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Subcutaneous n... ORPHA:31204
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Adrenal hypoplasia, Hypospadias, Absent eyelashes, Sparse eyebrow, ... OMIM:275210
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... OMIM:137940
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Arterial rupture, Atrophic scars, Follicular ... ORPHA:300179
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hyper... OMIM:212065
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis... ORPHA:100976
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Bilateral ... OMIM:618652
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry ski... OMIM:129490
Cryptogenic Organizing Pneumonia
Fever, Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactiv... ORPHA:1302
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Splenomegaly, Paronychia, Dry skin, Decreased serum zinc, Hypogo... OMIM:201100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Fever, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased propor... ORPHA:169154
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... ORPHA:3464
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Fasciitis, Unexplained fevers, Impulsivity, Hypothermia, Bruising sus... ORPHA:642
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, H... ORPHA:29072
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Abnormal heart morphology, Seizure, Camptodactyly o... OMIM:175700
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Pallor, Dysphagia OMIM:606353
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Abnormal lun... ORPHA:35173
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Apnea, Acute hepatic steatosis, Seizure OMIM:210200
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ... ORPHA:308552
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Dysmenor... ORPHA:79240
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Fever, Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericard... OMIM:619313
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Macs Syndrome
Prolonged bleeding time, Alopecia, Hypergonadotropic hypogonadism, Redundant skin, Sparse eyebrow... OMIM:613075
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:157
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Acute leukemia, Hyperkeratosis, Seizure, Hypogonadism, Attention deficit hyperact... ORPHA:281090
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... OMIM:253250
Noonan Syndrome 10
Curly hair, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, ... OMIM:616564
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis, Congenital nonbullous ichthyosiform erythroderma OMIM:275630
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno... ORPHA:98849
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Dysp... OMIM:615486
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Sparse hair, Atrial septal defect, Hypothyroid... OMIM:620005
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis, Dry skin ORPHA:461
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A... ORPHA:1366
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... OMIM:300842
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Seizure, H... OMIM:615438
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Sacral dimple, Diabetes mellitus, Widened atrophic scar, Alopecia, Hypertriglycer... ORPHA:536532
Meier-Gorlin Syndrome 1
Respiratory distress, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Flexion contrac... OMIM:224690
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Hypertension, Photosensitive myoclonic seizure, Type I diabetes mellitus, Abnorma... ORPHA:1192
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... ORPHA:2255
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Congestive heart failure, Cardiomyopathy, Hep... ORPHA:52430
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Abnormal bleedi... ORPHA:79329
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Asthma, Erythema, Hyperkeratosis, Seizure, Scaling skin, Congenital nonbullous i... OMIM:614457
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent foramen ... OMIM:609053
Silver-Russell Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Hepatoc... OMIM:180860
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Multifocal seizures, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Cardiomyopathy, S... OMIM:617710
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Hypergranulosis, Acantholysis, Multipl... OMIM:615508
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Seizure, Hepatic steatosis OMIM:201450
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse body hair, Decreas... OMIM:300869
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Hypospadias, Increase... OMIM:222470
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym... OMIM:256550
Glucagonoma
Anorexia, Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Inc... ORPHA:97280
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Cryptorchidism, Dry skin, Low posterior hairline, Premature ... ORPHA:2617
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... OMIM:609981
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Aggressive behavior, Hypo... ORPHA:457279
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:617093
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100080
Beckwith-Wiedemann Syndrome
Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Hepatoblastoma, Hypothyroidism, Po... ORPHA:116
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Abnormality of the spleen, Thickened skin, Whee... ORPHA:79456
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Seizure, Hypospadias OMIM:300934
Scarf Syndrome
Bifid scrotum, Inguinal hernia, Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, P... ORPHA:3134
Multiple Osteochondromas
Hemothorax, Pneumothorax, Dysphagia ORPHA:321
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splen... OMIM:604173
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Seizure, Ichthyosis, Dry skin ORPHA:816
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... OMIM:214900
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Congenital Myopathy 8
Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly OMIM:618654
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Thrombocytopenia, ... ORPHA:64743
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Hyperactivity, Elevated circulating creatine ki... OMIM:615673
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Elevated hemoglobin A... OMIM:616113
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... ORPHA:273
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Congestive heart failure, Dilated cardi... OMIM:605676
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fever, Elevated circulating creatine kin... ORPHA:732
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Optic disc pallor, Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Hypospadia... OMIM:613026
Fucosidosis
Hepatomegaly, Generalized hyperkeratosis, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladd... ORPHA:349
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Wagro Syndrome
Aggressive behavior, Hypertension, Agitation, Compulsive behaviors, Hypoplastic female external g... OMIM:612469
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fever, Abnormal T cell count, Abnormal B cell count,... ORPHA:331206
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Alopecia, Autoimmune hemolytic anemia, Chronic pulmonary obst... OMIM:616576
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Hyperactive renin-angiotensin system, Hyp... ORPHA:89938
48,Xxyy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogon... ORPHA:10
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Redundant neck skin, Ventricular septal defect, Thyroid lymphangie... OMIM:235255
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes ... ORPHA:791
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Mitral valve prolapse, Lo... ORPHA:2183
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity ORPHA:391
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Seizure, Recurrent hypoglycemia OMIM:618158
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Adams-Oliver Syndrome 5
Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Pulmo... OMIM:616028
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema, Hepatic steatosis, Por... OMIM:613658
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Multifocal seizures, Hypoglycemia, Aggressive behavior, Precocious puberty, Synophr... OMIM:301066
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leuk... ORPHA:99812
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Vascular Ehlers-Danlos Syndrome
Redundant skin, Subcutaneous nodule, Uterine rupture, Internal hemorrhage, Macule, Abnormal bleed... ORPHA:286
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Thrombocytopenia, Patent ductus ... ORPHA:290
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Sotos Syndrome
Ventricular septal defect, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Muscular ventricu... OMIM:117550
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Inguinal hernia, Congestive heart failure, Recurrent pneumonia, Arte... OMIM:225400
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Noonan Syndrome 13
Generalized-onset seizure, Highly arched eyebrow, Aggressive behavior, Infantile spasms, Cryptorc... OMIM:619087
Letterer-Siwe Disease
Fever, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Pallor, Neutropenia, Anemia OMIM:246400
Syndromic Diarrhea
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic ... ORPHA:84064
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Griscelli Syndrome
Fever, Hepatomegaly, Abnormal eyebrow morphology, Abnormal circulating lipid concentration, Abnor... ORPHA:381
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... ORPHA:536516
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Inhalational Anthrax
Fever, Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Focal autonomic seizure wi... ORPHA:247257
Ppoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97278
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Thyroiditis, Steatorrhea, Iron defici... OMIM:212750
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Seizure, Increased ci... ORPHA:1227
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Retinal cotton wool spot, Nodular regenerative hyperplasia of liver, Abnormal ... ORPHA:247691
Lipoid Proteinosis
Recurrent respiratory infections, Scarring, Thickened skin, Subcutaneous nodule, Hyperkeratosis, ... ORPHA:530
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Seizure, Decreased liver function... ORPHA:436271
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Hyperte... OMIM:616733
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Clitoral hypertrophy, Hypoglycemia, Secundum atrial septal defect, Seizure, Skin di... OMIM:608688
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue,... ORPHA:1901
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Pulmonary Non-Tuberculous Mycobacterial Infection
Fever, Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstructi... ORPHA:411703
Short Syndrome
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, I... ORPHA:3163
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Neoplasm of the l... ORPHA:659
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... OMIM:619573
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Verrucous papule, Hyperkeratosis, Seizure, Hypophosphatemia ORPHA:2611
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Inguinal hernia, Cryptorchidism, Thin skin, Anemia ORPHA:2719
Gomez-Lopez-Hernandez Syndrome
Alopecia, Hyperactivity, Decreased response to growth hormone stimulation test, Self-injurious be... OMIM:601853
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Parakeratosis, Psoriasiform lesion, Hypercalcemia, Intermittent ge... ORPHA:284426
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... ORPHA:284180
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... ORPHA:85212
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple... ORPHA:210122
Noonan Syndrome 2
Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Patent du... OMIM:605275
Wolcott-Rallison Syndrome
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno... ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating cr... OMIM:608104
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Recurrent upper respiratory tract infection... OMIM:252930
Noonan Syndrome 5
Curly hair, Nevus, Sparse eyebrow, Cryptorchidism, Dry skin, Fine hair, Multiple lentigines, Pulm... OMIM:611553
Marshall-Smith Syndrome
Bruising susceptibility, Thin skin, Generalized hirsutism ORPHA:561
Moebius Syndrome
Respiratory distress, Hypogonadotropic hypogonadism, Abnormality of the nail, Dysphagia, Arthrogr... OMIM:157900
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular se... ORPHA:436252
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Skin tags, Respiratory distress, Central apnea, Redundant skin, Congestive heart failure, Irregul... OMIM:616482
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... ORPHA:79319
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100082
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Sparse hair, Micropenis, Decreased testicular size OMIM:619185
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Ab... ORPHA:1807
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Esophageal Atresia
Omphalocele, Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, A... ORPHA:1199
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... ORPHA:2199
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Dilated card... OMIM:616541
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Thick hair, Hypothermia, Hiatus hernia, Scarring, Jaundice, Hepa... ORPHA:198
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Palmoplantar hyperkeratosis, Myoclonic seizure, Subvalvular aortic stenosis, Sparse hair, Hepatom... OMIM:280000
Hawkinsinuria
Sparse hair, Abnormal circulating tyrosine concentration, Hypothyroidism, Fine hair ORPHA:2118
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Elevated circulating creatine kinase concentration, Dyspnea, Cardiomyopathy... ORPHA:86812
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto t... OMIM:615688
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Recurrent respiratory infections, Elevated circulating C-reactive ... OMIM:615934
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Congenital diaphragmatic hernia, Atrial septal defect, ... ORPHA:373
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Redundant skin, Abnormal hair mor... ORPHA:2963
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decreased fertility, Hypogo... ORPHA:2234
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, Ty... OMIM:618549
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Hypop... OMIM:616026
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair ORPHA:50812
Mixed-Type Autoimmune Hemolytic Anemia
Fever, Tachycardia, Autoimmune hemolytic anemia, Exertional dyspnea, Pallor, Increased total bili... ORPHA:90036
Pediatric Systemic Lupus Erythematosus
Fever, Lymphopenia, Alopecia, Pericardial effusion, Raynaud phenomenon, Dyspnea, Lymphadenopathy,... ORPHA:93552
Quinquaud Folliculitis Decalvans
Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Seizure, Patchy alopecia, Multiple ... ORPHA:85279
Optic Atrophy 11
Hyperactivity, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Stereotypical body rocking, A... OMIM:617302
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Alopecia, Small scrotum, Abnormal dental enamel morphology, Hig... ORPHA:3253
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Highly arched eyebrow, Congenital diaphragmatic hernia, Asymmetric, line... OMIM:300887
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu... ORPHA:2028
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Seizure, Cardiomegaly OMIM:300886
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercho... ORPHA:633
Oculocerebrocutaneous Syndrome
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d... ORPHA:1647
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Redundant neck skin, Ventricular septal defect, Splenomegaly, Panc... ORPHA:1655
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Fever, Generalized lymphadenopathy, Ne... ORPHA:829
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Gingival bleeding, Palmoplantar cutis ... OMIM:130080
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Webbed neck, Hyperconvex fing... ORPHA:99413
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Pu... OMIM:618282
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Webbed neck, Hyperconvex fing... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Webbed neck, Hyperconvex fing... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Webbed neck, Hyperconvex fing... ORPHA:881
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism... ORPHA:3306
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Synophrys, Abnormal lung lobation, Atrial septal defect, Patent foramen ov... OMIM:607872
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Clonic seizure, Seizure, Status epilepticus, Generalized myoclonic s... ORPHA:79097
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hypomagnesemi... ORPHA:1578
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding OMIM:619692
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho... ORPHA:14
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Synophrys, Subdural he... ORPHA:536545
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Inguinal hernia, Splenomegaly, Synophrys, Recurrent upper respirator... OMIM:252900
Gand Syndrome
Sparse hair, Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Tonne-Kalscheuer Syndrome
Hypospadias, Congenital diaphragmatic hernia, Aggressive behavior, Concave nail, Cryptorchidism, ... OMIM:300978
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip... OMIM:232240
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Respiratory distress, Hypoglycemia, Conjugated h... OMIM:617156
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Hyperactivity, Sparse scalp hair, Ventricular septal defect, In... OMIM:607721
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Laurence-Moon Syndrome
Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Disp... ORPHA:2377
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Pulmonary art... OMIM:611812
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... OMIM:242300
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Macule, Fever, Epistaxis, Cardiac arrest, Splenomegaly... ORPHA:99745
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, P... OMIM:615846
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Multifocal seizures, Bilateral tonic-... OMIM:618143
Koolen-De Vries Syndrome Due To A Point Mutation
Numerous nevi, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to growth hor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Numerous nevi, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to growth hor... ORPHA:363958
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Cutaneous sclerotic plaque, Raynaud phenomenon, Thick... ORPHA:90289
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive beha... ORPHA:485350
Hatipoglu Immunodeficiency Syndrome
Inguinal hernia, Pancytopenia, Hypospadias, Petechiae, Recurrent bronchitis, Hyperpigmented/hypop... OMIM:620331
Bresek Syndrome
Alopecia, Cryptorchidism, Ichthyosis, Neonatal death, Decreased testicular size ORPHA:85284
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia, Seizure OMIM:300337
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Fever, Diabetes insipidus, Splenomegaly, Thrombocyto... OMIM:225750
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Patent ductus arteriosus, Seizure, Neutropenia, Atrial septal defect, Recurrent low... OMIM:618005
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Inguinal hernia, Bilateral tonic-clonic seizure, Infantile sp... ORPHA:544503
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Small scrotum, Cryptorchidism, Seizure, Micropenis, Thrombocytopenia OMIM:615597
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Respiratory insufficienc... ORPHA:2609
Stt3B-Cdg
Respiratory distress, Small scrotum, Cryptorchidism, Seizure, Micropenis, Thrombocytopenia ORPHA:370924
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ... OMIM:300953
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Cryptorchidism, Abnormality of the lymphatic system, Dysphagia, Pulmonic... ORPHA:638
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Coffin-Siris Syndrome 2
Sparse scalp hair, Hyperactivity, Thick eyebrow, Absent fifth fingernail, Inguinal hernia, Crypto... OMIM:614607
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Mac... ORPHA:298
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen, Dry skin, ... ORPHA:94059
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary a... OMIM:601186
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Anorexia, Tachypnea, Hyperammonemia, Seizure, Thrombocytopenia ORPHA:79242
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Leukocytos... ORPHA:340
Bazex Syndrome
Parakeratosis, Yellow nails, Anemia, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail... ORPHA:166113
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal lung morphology, Cough, Ecchymosis, Abnormal bleeding, Pericardial ... ORPHA:464329
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Lymphaden... OMIM:618886
Cole Disease
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Lymphopenia, Sparse eyebrow, Cryptorchidism, Mitral valve prola... OMIM:619745
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Anorexia, Iron deficiency anemia, Atypical pulmonary ca... ORPHA:100075
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Muckle-Wells Syndrome
Fever, Hepatomegaly, Camptodactyly of finger, Splenomegaly, Vasculitis, Ichthyosis, Restrictive v... ORPHA:575
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Nevus flammeus, Overgrowth of external geni... OMIM:130650
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le... OMIM:613990
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Micropenis, Hydrocele testis, Seizure, Hypocholestero... OMIM:618810
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Tracheomalacia, Abnormality of hair texture, Sparse eyebrow, Cryptorc... ORPHA:2108
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Alopecia, Ventricular septal defect, Cryptorchidism, Nevus ... OMIM:613001
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Papule, Absent eyebrow, H... ORPHA:740
Acute Radiation Syndrome
Fever, Abnormal bleeding, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pneumonitis, S... ORPHA:454831
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Abnormality of the menstrual ... ORPHA:90308
Autoimmune Polyendocrinopathy Type 3
Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoi... ORPHA:227982
Porphyria, Congenital Erythropoietic
Hepatomegaly, Alopecia, Absent eyebrow, Hemolytic anemia, Splenomegaly, Jaundice, Loss of eyelash... OMIM:263700
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Apnea, Infantile spasms, Aggressive behavior, Cryptorchidism, Jaun... OMIM:608093
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Abnormal circulating c... OMIM:620306
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Lymphatic Malformation 12
Inguinal hernia, Neonatal respiratory distress, Fetal ascites, Pleural thickening, Hydrocele test... OMIM:620014
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Thick eyebrow, Inguinal hernia, Ventricular septal defect, High... OMIM:618950
Adams-Oliver Syndrome 4
Ventricular septal defect, Hypoplastic toenails, Patent ductus arteriosus, Umbilical hernia, Atri... OMIM:615297
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Angina pectoris, Subcutaneous nodule, Telangiectasi... ORPHA:109
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Brittle hair, Hypoglycemia, Cholangitis, Microve... OMIM:124000
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, External genital hypoplasia, Thin nail, Hypergranulosis, Abnormal hair morphology, Eryt... OMIM:242100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Hypo... OMIM:301056
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Midshaft hypospa... ORPHA:2863
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal... ORPHA:85443
Autoimmune Polyendocrinopathy Type 4
Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary... ORPHA:227990
Melas
Wolff-Parkinson-White syndrome, Hypothyroidism, Hypoparathyroidism, Hypogonadotropic hypogonadism... ORPHA:550
2Q32Q33 Microdeletion Syndrome
Aggressive behavior, Fine hair, Attention deficit hyperactivity disorder, Sparse hair, Decreased ... ORPHA:251019
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... ORPHA:1414
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia ORPHA:93160
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Preauricular pit, Hypoglycemia, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism,... OMIM:620224
Biotinidase Deficiency
Hepatomegaly, Alopecia, Apnea, Splenomegaly, Tachypnea, Hyperammonemia, Seizure OMIM:253260
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tach... OMIM:239200
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c... ORPHA:365
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Infantile spasms, Cryptorchidism, Patent ductus arteriosus, Seizure, Frontal upsweep of hair OMIM:619797
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion contracture, Recurrent pne... OMIM:214150
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Bicuspid aortic valve, Microvesicular hepatic steatosis, Tachypnea, Ao... OMIM:220111
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Seizure, Micropenis OMIM:613861
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair, Ichthyosis ORPHA:177
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Gapo Syndrome
Hepatomegaly, Alopecia, Epidermoid cyst, Sparse eyelashes, Redundant skin, Sparse eyebrow, Seizur... OMIM:230740
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Maple Syrup Urine Disease
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Seizure, Elevated cir... OMIM:248600
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Seizure OMIM:237310
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Multiple pulmonary c... ORPHA:400
Acrofacial Dysostosis Syndrome Of Rodriguez
Deep-set nails, Thin skin OMIM:201170
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... OMIM:619355
Kcnq2-Related Epileptic Encephalopathy
Epileptic spasm, Apnea, Facial erythema, Seizure, Pallor, Generalized tonic seizure ORPHA:439218
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous... OMIM:607602
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Abnormal repetitive mannerisms, Hypospadia... OMIM:619293
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypoglycemia, Hypospadias, Apnea, Bilateral tonic-clonic seizure, Splenomegaly, Con... OMIM:252010
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Camptodactyly of toe, Seizure, Hypogonadism, ... ORPHA:127
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Numerous nevi, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Ton... OMIM:115150
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Apnea, Tongue thrusting, Cardiorespiratory arrest, Myoclonus, Hypotensi... OMIM:608643
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Costello Syndrome
Redundant neck skin, Acanthosis nigricans, Sparse hair, Atrial septal defect, Lymphangiectasis, D... OMIM:218040
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Low anterior hairline, Elbow flexion c... OMIM:618440
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, A... ORPHA:247598
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Bilateral t... OMIM:261515
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropi... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Nail-biting, Small scrotum, Ventricular septal defect, Bilateral tonic-cl... OMIM:620330
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Ambiguous genitalia, Omphalocele, Redundant skin, Absent eyelashe... OMIM:200110
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D... OMIM:150400
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Low post... ORPHA:2701
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Absent vas deferens, Hypothyroidis... ORPHA:93111
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, A... ORPHA:581
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms ORPHA:391307
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Diabetes mellitus, Abnormal dental enamel morphology, Trichiasis, Dry skin, Atypi... OMIM:601701
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Bicuspid aortic valve, Clonic seizure, Synophrys, Tics, Compulsive behaviors, Micr... OMIM:619475
Monosomy 18P
Alopecia, Low posterior hairline, Hypertension, Webbed neck, Hypothyroidism ORPHA:1598
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ventricular septal defect, Hypoglycemia, Abnormal fingernail morphology... ORPHA:2710
Hamamy Syndrome
Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Prolonged QRS complex, Microcytic anemia, ... OMIM:611174
African Trypanosomiasis
Erythematous macule, Hepatomegaly, Alopecia, Abnormal EKG, Abnormality of the endocrine system, H... ORPHA:3385
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... OMIM:188400
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Nevus sebaceous, Precocious puberty, Linear nevus sebaceous, Ichthyosis, Seizure, Nevus... OMIM:163200
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Pallor, Attention deficit hyper... ORPHA:64280
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Limb myoclonus, Dysphagia ORPHA:240103
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, Seizure, Br... OMIM:618815
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Seizure, Hypoglycemia, Hyperammonemia OMIM:614739
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Hypospadias, Cryptorchi... OMIM:217980
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Facial erythema, Neutropenia, Sparse hair, Hypothyroidism, Calcinosis, Premature... ORPHA:221008
Basilicata-Akhtar Syndrome
Nevus, Precocious puberty, Seizure, Camptodactyly, Preauricular skin tag, Neonatal hypoglycemia OMIM:301032
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia ORPHA:75233
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Adrenomyodystrophy
Primary adrenal insufficiency, Seizure, Hepatic steatosis ORPHA:977
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Mucoepithelial Dysplasia, Hereditary
Alopecia, Fibrocystic lung disease, Eosinophilia, Pneumonia, Recurrent pneumonia, Cor pulmonale, ... OMIM:158310
Tetanus
Fever, Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Loc... ORPHA:3299
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Tr... OMIM:619127
Schimke Immunoosseous Dysplasia
Macule, Fever, Pancytopenia, Transient ischemic attack, Hypermelanotic macule, Bilateral cryptorc... OMIM:242900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Epispadias, Abnormal fallopian tube morpho... ORPHA:2556
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Thromboc... OMIM:222700
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure wit... ORPHA:314655
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Epistaxis, Cerebral hemorrhage, Thrombocytopeni... ORPHA:99828
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Respiratory distress, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchi... OMIM:300219
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Situs inversus totalis, Upper airway obstruction, Polysplenia OMIM:612776
Adrenoleukodystrophy
Alopecia, Primary adrenal insufficiency, Seizure, Impotence, Hypogonadism, Attention deficit hype... OMIM:300100
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Slc35A1-Cdg
Respiratory distress, Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumo... ORPHA:238459
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Cryptorchidism, Asthma, ... OMIM:606593
Lamellar Ichthyosis
Recurrent respiratory infections, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hai... ORPHA:313
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla... OMIM:612843
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conj... ORPHA:53035
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T... ORPHA:264675
Orofaciodigital Syndrome I
Dry hair, Alopecia, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hypertension, Seiz... OMIM:311200
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia,... ORPHA:185
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp... ORPHA:456312
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture OMIM:203550
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... OMIM:277440
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Synophrys, Pat... OMIM:615009
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Syno... OMIM:606003
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Cryptor... ORPHA:329224
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Respiratory tract infection, Bruising susce... ORPHA:85448
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:42642
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Seizure, Hypogonadism, Cholelithiasis OMIM:619273
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Nail dystrophy, R... ORPHA:98813
Diaphanospondylodysostosis
Respiratory distress, Inguinal hernia, Respiratory insufficiency, Abnormal liver lobulation, Pulm... OMIM:608022
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Hypospadias, Decreased response to g... ORPHA:363528
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Lymp... ORPHA:90156
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna... ORPHA:257
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Seizure, Status epilepticus OMIM:612075
Japanese Encephalitis
Hyponatremia, Fever, Respiratory distress, Neutrophilia, Bilateral tonic-clonic seizure, Pulmonar... ORPHA:79139
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Pili torti ORPHA:1573
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial... DECIPHER:39
Joubert Syndrome 33
Cone/cone-rod dystrophy, Splenomegaly OMIM:617767
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Shoulder dimple, Precocious p... ORPHA:96182
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... OMIM:617571
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bronchiectasis, A... OMIM:612387
Kury-Isidor Syndrome
Alopecia, Sacral dimple, Ventricular septal defect, Seizure, Attention deficit hyperactivity diso... OMIM:619762
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotransp... OMIM:306955
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Increased circulating surfacta... ORPHA:60025
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneu... OMIM:602450
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Fever, Splenomegaly, Mediastinal lymp... ORPHA:91138
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Harlequin Ichthyosis
Recurrent respiratory infections, Sudden cardiac death, Malignant hyperthermia, Respiratory insuf... ORPHA:457
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Aceruloplasminemia
Refractory anemia, Diabetes mellitus, Decreased circulating copper concentration, Decreased circu... ORPHA:48818
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia, Seizure, Spontaneous hematomas, Prolonged prothrombi... ORPHA:95428
Bohring-Opitz Syndrome
Recurrent respiratory infections, Apnea, Cardiomegaly, Synophrys, Naevus flammeus of the eyelid, ... ORPHA:97297
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Fine hair, Hyperkeratosis, Pulmonary fibrosis, Sparse... ORPHA:1839
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Sacral dimple, Abnormality of thyroid phy... OMIM:300968
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Anemic pallor, Cryptorchidism, Thrombocytopenia, Pa... OMIM:227646
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Abnormal heart mo... OMIM:214110
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Redundant neck skin, Lipodystrophy, Thick hair, Redundant skin, Subretinal pigme... ORPHA:357074
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Hypothermia, Flexion contracture, Impotence, Erectile dysfunction, Dysph... ORPHA:99027
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Nep... OMIM:613404
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypogonadism, Sparse hair, Multiple cafe-au-lait spot... ORPHA:2316
Aregenerative Anemia
Fever, Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphad... ORPHA:101096
Fg Syndrome Type 1
Sacral dimple, Inguinal hernia, Hypospadias, Progressive flexion contractures, Facial wrinkling, ... ORPHA:93932
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Recurrent upper respiratory tract infections, Decreased proportion of... OMIM:233600
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... ORPHA:75249
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dr... ORPHA:384
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Synophrys, Compulsive behaviors, Neutropenia, Micropenis, Patent foramen ova... ORPHA:163956
Reynolds Syndrome
Fever, Hepatomegaly, Telangiectasia of the skin, Jaundice, Skin ulcer, Respiratory insufficiency,... ORPHA:779
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Tonic seizure, Synophrys, Hyposeg... OMIM:620075
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Inguinal hernia, Respiratory tract infection, Abnormal heart morpholo... ORPHA:93400
Aredyld
Generalized hypotrichosis OMIM:207780
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Camptodact... OMIM:607015
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Decreased fertility... ORPHA:1643
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Seizure, Neonatal death OMIM:613730
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism ORPHA:228390
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Inguinal hernia, Hypoglycemia, Elbow contracture, Clonic seizure, Focal-onset se... OMIM:620275
Lymphoid Interstitial Pneumonia
Fever, Hepatomegaly, Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Mediastinal lymphade... ORPHA:79128
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependen... ORPHA:96191
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Pericardial effusion, Thromboc... ORPHA:77259
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Bruising susceptibility, Thin skin OMIM:112250
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Thrombocytopenia, Premature graying of hair, Nail dystrophy,... OMIM:620365
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Flexion contracture, Fine hair, Seizure, Chordee, Status epilepticus, ... OMIM:618891
Geroderma Osteodysplastica
Redundant skin, Thin skin, Hernia ORPHA:2078
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Respiratory insufficiency, Leu... ORPHA:27
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Restlessness, Hyperactivity, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Low ... ORPHA:369891
Tetrasomy 5P
Preauricular pit, Pericallosal lipoma, Respiratory distress, Redundant neck skin, Recurrent respi... ORPHA:3309
Hallermann-Streiff Syndrome
Sparse scalp hair, Hyperactivity, Recurrent respiratory infections, Sparse eyelashes, Bilateral t... OMIM:234100
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Red hai... OMIM:614613
Ruijs-Aalfs Syndrome
Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Hypogonadism, Hepatocellular... OMIM:616200
Glutaric Acidemia I
Hepatomegaly, Seizure, Hypoglycemia, Elevated circulating glutaric acid concentration OMIM:231670
3-Methylglutaconic Aciduria, Type Iv
Inguinal hernia, Neonatal respiratory distress, Cryptorchidism, Biventricular hypertrophy, Subval... OMIM:250951
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Abnormal dental enamel morphology, Lip pit... ORPHA:2750
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Patent ductus arterio... OMIM:614857
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Generalized hypertrichosis, Hepatosplenomegaly, Abnormal heart mor... ORPHA:93399
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Bilateral tonic-clonic seizur... ORPHA:436159
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Clonic seizure, Focal-onset seizur... OMIM:618917
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Atrial septal defect, Aplasia cutis congenita, Pat... OMIM:616854
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Intellectual Developmental Disorder, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Synophrys, Achilles tendon contracture, Seizu... OMIM:611091
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Recurrent u... OMIM:301082
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Seizure, Small nail, Aplasia cutis congenita OMIM:614219
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Myelofibrosis
Fever, Splenomegaly, Myeloproliferative disorder, Pallor, Purpura OMIM:254450
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Tachypnea, Hyperammonemia, Hype... OMIM:615751
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... OMIM:602400
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Hypokalemia, Respiratory fail... ORPHA:330021
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Menometrorrhagia, Epist... ORPHA:79430
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, Cardiomyopathy, Absent toenail, Imp... ORPHA:158687
Nodular Non-Suppurative Panniculitis
Fever, Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema,... ORPHA:33577
Chromomycosis
Erythematous macule, Abnormal lung morphology, Subcutaneous nodule, Verrucous papule, Hypopigment... ORPHA:182
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Seizure, Agitation, Pallor, Myoclonus, Dysphagia ORPHA:13
Sialidosis Type 1
Splenomegaly, Hyperkeratosis, Seizure, Myoclonus, Hernia ORPHA:812
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Se... OMIM:619055
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Impulsivity, Aggressive behavior, Trichorrhexis nodosa, Sinus ... OMIM:261990
48,Xxxy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Inguinal hernia, Abnormal d... ORPHA:96263
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Hypomagnesemia OMIM:248190
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ... ORPHA:113
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Seizure, Syncope, Palpitations, Arrhythmia... ORPHA:464453
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Psoriasis 14, Pustular
Fever, Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-... OMIM:614204
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Emanuel Syndrome
Multiple joint contractures, Redundant neck skin, Congenital diaphragmatic hernia, Cough, Atrial ... ORPHA:96170
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... OMIM:229600
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Impulsivity, Infantile spasms, Crypt... OMIM:618929
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Dyspnea, Emphy... ORPHA:36412
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Shoulder dimple, Precocious puberty, Cryptor... ORPHA:813
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Knee flexion contracture, Sparse hair, Atrial septal defect, Micropenis, Pat... OMIM:210710
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Rubinstein-Taybi Syndrome 1
Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low ant... OMIM:180849
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Reduced forced vital capacity, Respiratory insufficiency due to muscle weakness, Follicular hyper... OMIM:617066
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Preauricular pit, Hepatomegaly,... OMIM:208540
Relapsing Polychondritis
Abnormal endocardium morphology, Macule, Pericarditis, Alopecia, Myocarditis, Dyspnea, Erythema, ... ORPHA:728
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Sparse hair,... OMIM:301029
Eec Syndrome
Aplasia/Hypoplasia of the skin, Slow-growing hair, Decreased response to growth hormone stimulati... ORPHA:1896
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Seizure, Hypoplas... OMIM:269921
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Cough, Skin vesicle, Alopecia, Thickened skin, Intermit... ORPHA:99921
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Patent ductu... OMIM:608149
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Inguinal hernia, Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Status epilepticus, Foc... OMIM:613970
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Paronychia, Abnormal blood ion concentration, Abnormality of the nail, Alop... ORPHA:79404
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Flexion contracture, Periorificial hyperkeratosis, Hyper... OMIM:614594
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Seizure, Glycosuria, Postpra... ORPHA:2089
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Persistent fetal circulation, Respiratory distress, Tricuspid regu... OMIM:612863
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Hypoglycemia, Elevated circulating creatine kinase concentrati... OMIM:300559
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Recurrent respiratory infections, Aggressive behavior, Tonic seizure... OMIM:300534
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atr... OMIM:236680
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Dr... OMIM:618535
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Hyperactivity, Sacral dimple, Brow ptosis, Thick hair, Highly arched eyebro... OMIM:605130
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentra... OMIM:185070
Coffin-Siris Syndrome
Low anterior hairline, Papillary thyroid carcinoma, Hernia, Aspiration pneumonia, Atrial septal d... ORPHA:1465
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Hepatomegaly, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper... OMIM:602579
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Polycythemia, Intrahepatic cholestasis, Perimembranous ventr... OMIM:606812
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Intellectual Developmental Disorder, Autosomal Dominant 65
Infantile spasms, Aggressive behavior, Synophrys, Low posterior hairline, Seizure, Attention defi... OMIM:619320
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Splenomegaly, Jaundice,... ORPHA:540
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Cellulitis OMIM:615907
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Hip contracture, Splenomegaly, Crypt... OMIM:216400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Splenomegaly, Cry... OMIM:613563
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Abnormal fingernail morphology, Bilateral tonic-clonic... ORPHA:79500
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Succinic Acidemia
Respiratory distress OMIM:600335
49,Xxxxy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Abnormal dental enamel morp... ORPHA:96264
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Hypoglycemia, Decreased response to growth hormone stimulation test, ... OMIM:616007
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Abnormal lung lobation, Hypoalbuminemia, Hypocholesterolemia, Atria... OMIM:270400
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concent... OMIM:612852
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Congenital foot contractures, Seizure, Bradycardia, Neonatal hypoglycemia ORPHA:565624
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Congestive heart fa... OMIM:309900
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... OMIM:615538
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Seizure, Sparse hai... OMIM:616449
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... ORPHA:251393
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Periungual erythema, Scaling skin, Atrial septal defect, Neona... OMIM:308205
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Erythema, Lymphadenopathy, Se... ORPHA:343
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair, Arrhythmia OMIM:273400
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Raynaud phenomenon, Melanocytic nevus, Linear nevus sebaceous... ORPHA:2874
Ogden Syndrome
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Fine hair,... ORPHA:276432
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Intermittent hyperventilation, Bilateral tonic-clonic seizure with f... ORPHA:163681
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Intellectual Developmental Disorder, Autosomal Dominant 51
Febrile seizure outside the age of 3 months to 6 years, Unilateral cryptorchidism, Aggressive beh... OMIM:617788
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Multiple joint contractures, Unexplained fevers... ORPHA:51
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Elevated circulating alpha... ORPHA:457083
Nicolaides-Baraitser Syndrome
Dry hair, Low anterior hairline, Sparse hair, Sparse medial eyebrow, Absent eyebrow, Cryptorchidi... OMIM:601358
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Apnea, Portal hypertension, Highly ... ORPHA:1454
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Decreased HDL cholesterol concentration, Primary testicular failu... ORPHA:85450
Adams-Oliver Syndrome 1
Aplasia cutis congenita on trunk or limbs, Alopecia, Bicuspid aortic valve, Ventricular septal de... OMIM:100300
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi ORPHA:643
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614034
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Inguinal hernia, Hypospadias, Seizure, Status epilepticus, Bradycardia, Pul... OMIM:619272
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Cough ORPHA:36386
Dermatomyositis
Abnormal eosinophil morphology, Myocardial infarction, Abnormality of the nail, Papule, Aplasia/H... ORPHA:221
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... OMIM:619051
Scarf Syndrome
Bifid scrotum, Inguinal hernia, Cryptorchidism, Low anterior hairline, Low posterior hairline, Pe... OMIM:312830
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Reduced forced... OMIM:613385
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Listeriosis
Fever, Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Myocarditis, Jaundice, Perit... ORPHA:533
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Thin nail, Short nail, Hypergra... OMIM:257980
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, Mediastinal... OMIM:620233
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Liver abscess, Abnormal fingernail morphology, Cigarette-paper ... ORPHA:678
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... OMIM:607765
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Patent ductus arterio... OMIM:239850
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti... OMIM:614941
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Abnormal hair morphology, Splenomega... OMIM:133540
Gapo Syndrome
Skin tags, Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Hypopigmented... ORPHA:2067
Cranioectodermal Dysplasia 2
Cholangitis, Sparse hair, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Sparse eyebro... OMIM:613610
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhosis, Corn... ORPHA:404454
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Decreased response to growth hormone stimulation test, Dyspnea... ORPHA:94089
Felty Syndrome
Hepatomegaly, Pericarditis, Sinusitis, Recurrent respiratory infections, Splenomegaly, Thrombocyt... ORPHA:47612
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Failure to th... OMIM:235555
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Pancreatitis, ... ORPHA:405
Stankiewicz-Isidor Syndrome
Hyperactivity, Sacral dimple, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent duct... OMIM:617516
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Hyperconvex n... OMIM:106260
Opitz-Kaveggia Syndrome
Skin tags, Sacral dimple, Multiple joint contractures, Hypospadias, Inguinal hernia, Facial wrink... OMIM:305450
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c... OMIM:614841
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Impulsivity, Frontal balding, Precocious puberty, Cryptorchidism, Synophrys, Abnorm... ORPHA:96092
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... OMIM:604536
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Pancyto... OMIM:260400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair, Generalized lipodystrophy, Seizure, Congenital generali... OMIM:608154
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Kabuki Syndrome 2
Highly arched eyebrow, Lower lip pit, Hirsutism, Seizure, Long eyelashes, Pulmonic stenosis, Atri... OMIM:300867
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Hepatomegaly, Thick eyebrow, Inguinal hernia, Aggressive behavior, S... OMIM:252940
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Secondar... ORPHA:488618
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Numerous nevi, Elevated circulating creatine kinase... ORPHA:314389
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Bilateral tonic-clonic seizure, Cardiomegaly, Hepatospleno... OMIM:268800
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Zellweger Syndrome
Hepatomegaly, Very long chain fatty acid accumulation, Ventricular septal defect, Hypospadias, Cr... ORPHA:912
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Thrombotic Thrombocytopenic Purpura, Hereditary
Fever, Reticulocytosis, Respiratory distress, Transient ischemic attack, Myocardial infarction, J... OMIM:274150
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development... OMIM:610628
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Anorexia, Chronic noninfectious ... ORPHA:100079
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Petechiae, Cardiomegaly, Splenomegaly, Flexion co... OMIM:230000
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Patent foramen ovale, Patent... OMIM:616364
Histidinuria-Renal Tubular Defect Syndrome
Hypoplastic toenails, Hypoglycemia ORPHA:2158
Progressive Hemifacial Atrophy
Seizure, Aplasia/Hypoplasia of the skin ORPHA:1214
Fanconi Anemia, Complementation Group C
Hypopigmented macule, Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal defect, An... OMIM:227645
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Erythema, Upper airway obstruction ORPHA:100057
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Hypertension, Hypoplasia of t... ORPHA:110
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... ORPHA:171851
Tay-Sachs Disease
Aspiration, GM2-ganglioside accumulation, Pallor, Seizure OMIM:272800
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... OMIM:613179
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ven... OMIM:620296
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Hyperkeratosis, Coarse hair, Joint contracture of the 5th ... ORPHA:1883
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph... ORPHA:320
Houge-Janssens Syndrome 1
Seizure, Multifocal seizures, Hypoglycemia OMIM:616355
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Inguinal hernia, Parakeratosis, Severe B lymphocytopenia, Bil... ORPHA:83617
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypopl... OMIM:614732
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Elevated circu... ORPHA:610
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Congestive heart fa... OMIM:230500
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal fingernail morphology... ORPHA:2796
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, Thickened skin, Low... ORPHA:1252
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Recurrent respiratory infections, Splenomegaly, Aplasia of the s... OMIM:612132
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat... OMIM:308800
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Elevated ci... OMIM:619424
Rin2 Syndrome
Sparse scalp hair, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Redundant ski... ORPHA:217335
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Hypertension, Patchy alopecia, Hypothyroidism OMIM:617763
Ectodermal Dysplasia/Short Stature Syndrome
Asthma, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Enamel hypoplasia, A... OMIM:616029
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Abnormal hair morphology, Per... OMIM:264600
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Anemic pallor, Cryptorchidism, Th... OMIM:227650
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Split nail, Alopecia, Hyp... OMIM:305000
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Low anterior hairline,... OMIM:619244
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Elevated circulating parathyroid hormone level OMIM:600785
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Dry skin, ... ORPHA:3157
Infantile Krabbe Disease
Respiratory distress, Hypopigmented skin patches, Abnormal heart rate variability, Seizure, Respi... ORPHA:206436
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Anemic pallor, Cryptorchidism, Thrombocytopenia, Re... OMIM:600901
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Leptospirosis
Fever, Hepatomegaly, Pericarditis, Respiratory distress, Anorexia, First degree atrioventricular ... ORPHA:509
Atelis Syndrome 2
Sacral dimple, Thrombocytopenia, Dyspnea, Elevated circulating thyroid-stimulating hormone concen... OMIM:620185
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoa... ORPHA:171
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Hernia, Micropenis, Abnormal repetitive ma... ORPHA:261494
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, El... ORPHA:3044
Gaucher Disease
Elevated circulating C-reactive protein concentration, Abnormal bleeding, Hepatomegaly, Abnormal ... ORPHA:355
Koolen-De Vries Syndrome
Hypopigmentation of hair, Bicuspid aortic valve, Hypospadias, Abnormal dental enamel morphology, ... ORPHA:96169
Bainbridge-Ropers Syndrome
Thick eyebrow, Supernumerary nipple, Highly arched eyebrow, Precocious puberty, Cryptorchidism, S... OMIM:615485
Plummer-Vinson Syndrome
Concave nail, Geophagia, Hypochromic microcytic anemia, Iron deficiency anemia, Pallor, Dysphagia... ORPHA:54028
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Micropenis, Pleural ef... OMIM:616897
Beare-Stevenson Cutis Gyrata Syndrome
Skin tags, Preauricular pit, Bifid scrotum, Redundant neck skin, Hypospadias, Respiratory distres... OMIM:123790
8Q24.3 Microdeletion Syndrome
Skin tags, Respiratory distress, Ectopic posterior pituitary, Naevus flammeus of the eyelid, Abno... ORPHA:508488
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... ORPHA:1028
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Elevated... OMIM:619525
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Patent ductus arteriosus, Dysphagia, Hypopnea, Seizure, Respiratory failure, Bra... OMIM:617248
Desbuquois Syndrome
Sparse hair, Ventricular septal defect, Camptodactyly of finger, Abnormal eyelash morphology ORPHA:1425
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the skin, Small scrotum, Nevus, Inguinal hernia, Campt... ORPHA:2990
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Restlessness, Hepatomegaly, Fever, Respiratory distress, Recurrent... OMIM:615273
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Seizure, Perimembranous ventricular septal defect, Hyperalaninemia... OMIM:619170
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Impotence, Arrhythmia ORPHA:85447
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Abnormal bleeding, Hepatomegaly, Autoimmune thrombocytop... ORPHA:77293
Plague
Fever, Hepatomegaly, Tachycardia, Respiratory distress, Abnormal bleeding, Anorexia, Hematemesis,... ORPHA:707
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Generalized myoclonic seizure, Microvesicular hepatic steatosis, P... OMIM:300868
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, Mitral valve prolapse, Sparse hair OMIM:615278
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Inguinal hernia, Absence of the pulmonary valve, Decreased resp... OMIM:601808
Trichothiodystrophy
Ridged nail, Brittle hair, Multiple joint contractures, Generalized-onset seizure, Neutropenia, T... ORPHA:33364
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Thrombocytopenia, Le... OMIM:259720
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Bloom Syndrome
Bronchitis, Adipose tissue loss, Paronychia, Male infertility, Decreased proportion of CD4-positi... ORPHA:125
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Congestive heart failure, Thickened skin... OMIM:181270
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Seizure, Hyperleucinemia OMIM:210210
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Fever, Respiratory distress, Transient ischemic attack, Adrenal calcific... ORPHA:51608
Warburg-Cinotti Syndrome
Ankle flexion contracture, Erythema, Elbow flexion contracture, Pneumothorax, Thin skin, Follicul... OMIM:618175
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Highly arched eyebrow, Microcytic anemia, Cryptorchidism, Insulin-... ORPHA:293967
Marshall-Smith Syndrome
Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Aspiration pneumonia, Sparse hair, Atri... OMIM:602535
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Hyperparathyroidism, Inguinal hernia, Patent ductus arteriosus, Ovarian cys... OMIM:618188
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Preauricular pit, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Sparse ... OMIM:620186
Cryptococcosis
Fever, Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Med... ORPHA:1546
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Brittle hair, Increased serum beta-hexosamin... OMIM:252500
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Seizure, Flexion contracture, Dysphagia OMIM:620001
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Hepatomegaly, Limb joint contracture, Shoulder flexion con... OMIM:620369
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Abnormality of the subungual region, Atrophic scars, Palmoplantar keratoderma, Nail... ORPHA:79411
8Q22.1 Microdeletion Syndrome
Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Abnormal hair pattern, Sparse e... ORPHA:178303
Monosomy 22
Aplasia of the thymus, Thickened skin, Synophrys, Hypochromic microcytic anemia, Hepatosplenomega... ORPHA:96123
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans ORPHA:409
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Onycholysis, Nail dystrophy, Facial telangie... OMIM:614564
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Hyperammonemia, Status epilepti... OMIM:616672
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Chronic Pneumonitis Of Infancy
Fever, Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal ... ORPHA:91359
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Bartsocas-Papas Syndrome 1
Skin tags, Bilateral cryptorchidism, Flexion contracture, Micropenis, Patent foramen ovale, Absen... OMIM:263650
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Hypothyroidism, Iron deficiency anemia, Hypoalbuminemia, Budd-C... OMIM:226300
Retinitis Pigmentosa 51
Pallor OMIM:613464
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... OMIM:600955
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... OMIM:226650
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Cryptorchidism, Hepatosplen... ORPHA:263487
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit... OMIM:207800
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Cartilage-Hair Hypoplasia
Hepatomegaly, Sacral dimple, Sparse eyebrow, Abnormality of the pancreas, Heart block, Respirator... ORPHA:175
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Redundant neck skin... OMIM:214100
Restrictive Dermopathy
Multiple joint contractures, Scaling skin, Atrial septal defect, Sparse hair, Hypospadias, Sparse... ORPHA:1662
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Flexion contracture, Small nail OMIM:617396
Hutchinson-Gilford Progeria Syndrome
Alopecia, Angina pectoris, Myocardial infarction, Congestive heart failure, Absence of subcutaneo... OMIM:176670
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Epilepsia pa... OMIM:203700
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... ORPHA:312
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Thrombocytopenia, Hyper... OMIM:251100
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Highly arched ey... OMIM:620305
Aa Amyloidosis
Hepatomegaly, Cholestasis, Abnormal heart morphology, Adrenal insufficiency, Hypotension, Hypothy... ORPHA:85445
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Neonatal asphyxia, Asthma, Generalized ichthyosis, Follicular hyperkeratosis, ... OMIM:608649
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... OMIM:257220
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Systemic-Onset Juvenile Idiopathic Arthritis
Fever, Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenom... ORPHA:85414
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Chronic Granulomatous Disease
Macule, Hepatomegaly, Fever, Liver abscess, Sinusitis, Hypermelanotic macule, Abnormality of neut... ORPHA:379
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Aplasia cutis congenita on trunk or limbs, Scarring, Erythema, Anemia, Atrophic scars, ... ORPHA:79396
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperker... ORPHA:1806
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Cryptorchidism, Pancreatic islet-cell hyperplasia,... OMIM:267000
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow, Preauricular sk... ORPHA:2707
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Bilateral tonic-clonic seizure, Myoclonic seizure, Biventricular hyper... OMIM:615474
Mandibulofacial Dysostosis With Alopecia
Preauricular pit, Alopecia, Sparse eyelashes, Bicuspid aortic valve, Preauricular skin tag OMIM:616367
Peroxisome Biogenesis Disorder 5A (Zellweger)
Generalized-onset seizure, Conjugated hyperbilirubinemia, Atrial septal defect, Intrahepatic bili... OMIM:614866
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Brucellosis
Liver abscess, Anorexia, Elevated circulating C-reactive protein concentration, Bronchitis, Leuko... ORPHA:1304
Biotinidase Deficiency
Respiratory distress, Alopecia, Apnea, Bilateral tonic-clonic seizure, Infantile spasms, Focal mo... ORPHA:79241
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... ORPHA:30391
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Epileptic spasm, High... ORPHA:96147
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Redundant skin, Cryptorchidism, Mitral valve prolapse, Atypical ... OMIM:618000
Niemann-Pick Disease, Type C2
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Prolonged neonatal j... OMIM:607625
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Cutis laxa, Hydrocele testis, Coarse hair, Lymphopenia OMIM:605309
Bazex-Dupre-Christol Syndrome
Nevus, Coarse hair, Pili torti, Sparse hair, Trichoepithelioma, Milia, Trichorrhexis nodosa OMIM:301845
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... ORPHA:1010
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Papule, Absent eyebrow, Alopecia, ... ORPHA:2273
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus, Lipoatrophy ORPHA:2301
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Febrile seizure (within the age range of 3 months to 6 years), Sparse eyebrow OMIM:619989
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... ORPHA:679
Encephalocraniocutaneous Lipomatosis
Alopecia, Lipodystrophy, Abnormal eyelash morphology, Subcutaneous nodule, Multiple lipomas, Seiz... ORPHA:2396
Schinzel-Giedion Syndrome
Respiratory distress, Inguinal hernia, Streak ovary, Hypospadias, Myeloid leukemia, Epileptic spa... ORPHA:798
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante... OMIM:119580
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol... ORPHA:71
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent respiratory infections, Brittle scalp h... OMIM:256500
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Ventricular septal defect, Sparse eyelashes, Concave nail, Abnormality of hair text... OMIM:234050
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Rothmund-Thomson Syndrome Type 2
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Alopecia totalis, Abnormal de... ORPHA:221016
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Sei... ORPHA:90045
Lymphatic Filariasis
Fever, Orchitis, Lymphadenitis, Wheezing, Epididymitis, Hypereosinophilia, Vaginal hydrocele, Abn... ORPHA:2035
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormal dental enamel ... ORPHA:1515
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Subcutaneous nodule, Hyperkeratosis, Self-injurious behavior, Agitation OMIM:618339
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Nevus, Decreased serum iron, Skin erosion, Dilated cardiomyopathy, Flexion contracture, Dysphagia... ORPHA:89842
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypertrichosis, Abnormal lymphatic vesse... ORPHA:2330
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Pate... ORPHA:980
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Thrombocytopenia, Hyper... OMIM:251110
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Splenomegaly, Optic atrophy, Sea-blue histiocytosis, Dysphagia, Failure to thrive OMIM:230600
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia, Anemia OMIM:618182
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye... ORPHA:1787
Down Syndrome
Abnormality of the lymphatic system, Decreased fertility, Type II diabetes mellitus, Sparse hair,... ORPHA:870
Braddock-Carey Syndrome 1
Curly hair, Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Sparse hair, Enamel ... OMIM:619980
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Self-injurious behavior, Seizure, Compulsive behaviors, Sparse hair, Abno... OMIM:613174
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Erythema, Skin ulcer, R... ORPHA:37
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Nail dystrophy, Nail dysplasia, ... OMIM:226600
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Thin nail, Bilateral tonic-clonic seizure, Aggressive behavior, Neutropenia, Seizure, Foca... OMIM:617799
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ichthyosis OMIM:242510
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Abnormality of female external genitalia, Erythema, Skin erosion ORPHA:83453
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Upper airw... ORPHA:1827
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Curly hair, Ventricular septal defect, Splenomegaly, Synophrys, Woolly hair, Patent... OMIM:618268
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia OMIM:615453
Alg9-Cdg
Abnormal lung lobation, Right ventricular dilatation, Abnormal left ventricular outflow tract mor... ORPHA:79328
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Fine hair, Hepatic fibrosis, Pulmonary hypoplasia, Nail dysplasia, Sparse hair, Asci... OMIM:614091
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... OMIM:617337
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Abnormal bleeding, Hypogonadotropic hypogonadism, Abnormal ... ORPHA:648
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Chops Syndrome
Curly hair, Chronic lung disease, Ventricular septal defect, Thick hair, Splenomegaly, Cryptorchi... OMIM:616368
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Sinusitis, Sple... OMIM:617591
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... ORPHA:3384
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hypergranulosis, Verrucous papule, Palmoplantar hyperkeratosis, Neopla... ORPHA:79501
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, Anemia OMIM:617883
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibr... OMIM:619377
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Respiratory distress, Ventricular septal defect, Respiratory failure, Pulmonary hypo... OMIM:617895
Cowden Syndrome
Macule, Abnormal penis morphology, Endometrial carcinoma, Generalized hyperkeratosis, Follicular ... ORPHA:201
Aarskog-Scott Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... OMIM:305400
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker... ORPHA:79151
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Abnormality of the nail, Ichthyosis ORPHA:79394
Tyshchenko Syndrome
Ventricular septal defect, Thick hair, Supernumerary nipple, Cryptorchidism, Low anterior hairlin... OMIM:615102
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Satoyoshi Syndrome
Alopecia, Hypoplasia of the uterus, Mildly elevated creatine kinase, Alopecia universalis, Amenor... OMIM:600705
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Noonan Syndrome 4
Abnormal bleeding, Curly hair, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, High an... OMIM:610733
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Alopecia, Psoriasiform dermatitis, Increased mean platelet volume, Menorrhagia... OMIM:617443
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnorma... ORPHA:129
Pmm2-Cdg
Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimulating hormo... ORPHA:79318
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Neonatal respiratory distress, Decreased heart ... OMIM:619005
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Pneumonia, Splenomegaly, Thickened skin, ... OMIM:253200
Rothmund-Thomson Syndrome
Calcinosis, Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Sparse eyelashes, Alopecia to... ORPHA:2909
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic... OMIM:601345
Hemifacial Atrophy, Progressive
Seizure, Patchy alopecia, Poliosis OMIM:141300
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Abnormality of temperature regulation, Foot joint co... ORPHA:90321
Global Developmental Delay With Speech And Behavioral Abnormalities
Inguinal hernia, Supernumerary nipple, Precocious puberty, Cryptorchidism, Seizure, Attention def... OMIM:619243
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Neonatal death, Skin ... OMIM:609638
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... ORPHA:35858
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Neonatal hypoglycemia, Aggressive behavior, Cardiomyopathy, Seizure, Dysphag... ORPHA:572798
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia,... OMIM:235510
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Precocious puberty, Cryptorchidism... OMIM:616682
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal to... ORPHA:1005
Triploidy
Omphalocele, Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptor... ORPHA:3376
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Thin skin, Bruising susceptibility, Mitral valve prolapse OMIM:166200
Cerebral Visual Impairment
Intracranial hemorrhage, Seizure, Ischemic stroke, Attention deficit hyperactivity disorder, Neon... ORPHA:447788
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Subcutaneous nodule, Abnormal lung lobation, Generali... ORPHA:744
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... OMIM:266500
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Neonatal respiratory distress, Hyperkeratosis, Adrenal insufficiency, Dy... OMIM:615510
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Sca... OMIM:616295
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Noonan Syndrome 9
Curly hair, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Prolonged prothrombin time... OMIM:616559
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Bilateral tonic-clonic seizure, Albinism, ... OMIM:617050
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic ... OMIM:243910
Kid Syndrome
Psoriasiform dermatitis, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Skin nodul... ORPHA:477
8P11.2 Deletion Syndrome
Preauricular pit, Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogona... ORPHA:251066
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Johanson-Blizzard Syndrome
Fair hair, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, M... OMIM:243800
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cutis laxa, Cirrhosis, Sparse hair, Dry skin, Peripheral pulmo... OMIM:614099
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Bilateral tonic-clonic seizure, Hypovolemia, Abnorm... ORPHA:99885
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morphology, Loss of truncal subc... ORPHA:2463
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Alpha-N-Acetylgalactosaminidase Deficiency
Seizure, Recurrent pneumonia, Cardiomegaly ORPHA:3137
Holocarboxylase Synthetase Deficiency
Alopecia, Tachypnea, Hyperammonemia, Seizure, Thrombocytopenia, Hyperventilation OMIM:253270
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... ORPHA:96149
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplanta... ORPHA:64745
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Sacral dimple, Abnormal fingernail morphology, Hypospadias... ORPHA:235
Odontochondrodysplasia
Respiratory distress, Patent ductus arteriosus, Dentinogenesis imperfecta ORPHA:166272
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Cryptorchidism, Alopecia of scalp, Excessive wrinkling of palmar skin OMIM:210700
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Trisomy 8P
Sacral dimple, Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism,... ORPHA:264450
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Dermatoosteolysis, Kirghizian Type
Fever, Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nai... ORPHA:1657
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... OMIM:300998
Sotos Syndrome
Flexion contracture, Atrial septal defect, Hypothyroidism, Hypospadias, Cryptorchidism, Patent du... ORPHA:821
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Hyperconvex nail, Hypoplastic left heart, Sparse hair, Atrial septal defect OMIM:619721
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Patent ductus arteriosus, Abnormal left ventricular function,... ORPHA:229
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Co... OMIM:612281
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Sacral dimple, Nevus flammeus, Ventricular septal defect, Abnor... ORPHA:1507
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Patent ductus arteriosus, Low ant... ORPHA:1517
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Sclerodactyly, Ovotestis, Orthoke... OMIM:610644
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ab... ORPHA:99776
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Chilton-Okur-Chung Neurodevelopmental Syndrome
Anterior pituitary hypoplasia, Synophrys, Low anterior hairline, Cephalohematoma, Sparse hair, Mi... OMIM:619841
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Fine hair, Acute leukemia, ... ORPHA:3474
Hajdu-Cheney Syndrome
Synophrys, Low anterior hairline, Coarse hair, Hernia, Generalized hirsutism, Hepatomegaly, Abnor... ORPHA:955
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Small scrotum, Apnea, Cryptorchidism, Fine hair, Knee flexion... ORPHA:85201
Gracile Bone Dysplasia
Asplenia, Micropenis, Seizure, Hypocalcemia, Hypoplastic spleen, Ascites OMIM:602361
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Hypospadias, Abnormal pulmonary valve morph... ORPHA:500
Ramos-Arroyo Syndrome
Respiratory distress, Sparse scalp hair, Shoulder dimple, Patent ductus arteriosus, Atrial septal... ORPHA:1051
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia, Nail dysplasia, Small nail, Sparse hair,... OMIM:614813
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Sparse scalp hair, Gastrointestinal hemorrhage, Anor... ORPHA:394
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re... OMIM:146510
Fibrodysplasia Ossificans Progressiva
Alopecia, Respiratory failure, Respiratory insufficiency OMIM:135100
Ulnar-Mammary Syndrome
Hypoplasia of penis, Abnormality of temperature regulation, Ventricular septal defect, Abnormal f... ORPHA:3138
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Hyperkeratosis, Nevus, Lipoma, Cervix cancer OMIM:620189
Loeys-Dietz Syndrome
Abnormal bleeding, Cardiac arrest, Camptodactyly of finger, Patent ductus arteriosus, Atypical sc... ORPHA:60030
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormality of the nail ORPHA:254478
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Atrial... ORPHA:567
Rubinstein-Taybi Syndrome
Highly arched eyebrow, Cryptorchidism, Respiratory insufficiency, Atypical scarring of skin, Seiz... ORPHA:783
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Epistaxis, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Asthma, P... ORPHA:495818
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Thrombocytopenia, Pat... ORPHA:163979
Recombinant 8 Syndrome
Small scrotum, Ventricular septal defect, Camptodactyly of finger, Redundant skin, Abnormal hair ... ORPHA:96167
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Congenital diaphragmatic hernia, Sparse eyebrow, Low pos... OMIM:606164
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Respiratory insufficiency, Cutis laxa, Atrophic scars, Sparse hair, Joint contracture, Dermal tra... OMIM:615349
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Seizure, Hirsutism OMIM:618087
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Nevus, S... OMIM:613451
Takenouchi-Kosaki Syndrome
Inguinal hernia, Hypospadias, Nevus, Highly arched eyebrow, Increased mean platelet volume, Spars... OMIM:616737
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Prolonged bleeding time, Skin ulcer, Congenital lo... ORPHA:1114
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Epileptic spasm, Cryptorchidism, Dyspnea, Loss of eyelashes, Generalized non-motor (abs... ORPHA:2636
Koolen-De Vries Syndrome
Hyperactivity, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Abno... OMIM:610443
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Inguinal hernia, Bicuspid aortic valve, Transient ischemic attack, Subarach... ORPHA:91387
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Hyperkeratosis, Seizure, Scaling skin, Dry skin OMIM:609180
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Thickened skin, Patent ductus ar... OMIM:139210
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Kleefstra Syndrome 1
Recurrent respiratory infections, Hypospadias, Aggressive behavior, Cryptorchidism, Synophrys, Tr... OMIM:610253
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Cough, Neutropenia, Abnormal penis mor... ORPHA:95455
Glutaryl-Coa Dehydrogenase Deficiency
Infantile spasms, Subdural hemorrhage, Retinal hemorrhage, Seizure, Fasting hypoglycemia, Dysphagia ORPHA:25
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Lacunar stroke, Alopecia, Transient ischemic attack OMIM:600142
Meige Disease
Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas... ORPHA:90186
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Ventricular septal defect, Aggressive behavior, Hirsutism, Seizure, Long eyelashes... OMIM:212066
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Nevus flammeus, Ventricular septal defect, Bicuspid aortic valve, Hig... OMIM:610759
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponat... ORPHA:534
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Bicuspid aortic valve, Thin nail... OMIM:218330
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Seizure... ORPHA:452
Fontaine Progeroid Syndrome
Small scrotum, Bicuspid aortic valve, Redundant skin, Synophrys, Low anterior hairline, Coarse ha... OMIM:612289
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cryptorchidism, Cholestasis,... ORPHA:52
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Inguinal hernia, Abnormal heart valve morphology, Redundant skin, Cryptorchidi... ORPHA:2953
Immunodeficiency 31C
Fever, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Diabetes mellitu... OMIM:614162
Lelis Syndrome
Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Nail dys... ORPHA:140936
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Flexion contracture, Hypoplasia of the ovary, Azotemia, Micropenis, Hepat... OMIM:619321
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Infantile Digital Fibromatosis
Hyperkeratosis, Skin nodule, Parakeratosis ORPHA:199267
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema, Generaliz... OMIM:619183
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... OMIM:619534
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Dilated third ventricle, Cryptorchidism, Asthma, Flexion contra... ORPHA:500055
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase ... OMIM:610505
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Acrokeratoelastoidosis Of Costa
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hyperkerat... ORPHA:38
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Flexion contracture, Hypertrichosis OMIM:271225
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Intellectual Developmental Disorder, Autosomal Dominant 66
Infantile spasms, Secundum atrial septal defect, Seizure, Transposition of the great arteries, Sp... OMIM:619910
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Distal Deletion 19P
Alopecia, Vaginal hernia, Ventricular septal defect, Seizure, Umbilical hernia, Tricuspid valve p... ORPHA:96129
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Cough, Emphysema, Abnormal salivary gland morphology, Hepa... OMIM:181000
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Apnea, Abnormality of the menstrual cycle, Genital hernia, Subcutaneous nodule, ... ORPHA:285
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic... OMIM:614294
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... OMIM:604292
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Dentinogenesis impe... OMIM:184260
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary artery stenosis, Patent d... ORPHA:251071
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Generalized-onset seizure, Unilateral cryptorchidism, Anterior pituitary hypopla... OMIM:613457
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
C Syndrome
Omphalocele, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, C... OMIM:211750
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Small scrotum, Hypospadias, Cryptorchidism, Congestive heart failure, Thickened ... ORPHA:2505
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Absent... OMIM:148210
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Splenomegaly, Hypopigmented ... ORPHA:163746
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Bilateral tonic-clonic seizure, Sparse eyebrow, Fine hair, Sparse... OMIM:617988
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia, Decreased testicular size, Anemia OMIM:620040
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Epileptic spasm, Lipodystroph... ORPHA:86309
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Hyperkeratosis, Annular cutaneous lesion, Vasculitis in the skin, Dermal atr... ORPHA:163525
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Micropeni... OMIM:618280
Sanjad-Sakati Syndrome
Hypoparathyroidism, Recurrent respiratory infections, Hypoplasia of penis, Abnormal dental enamel... ORPHA:2323
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Ventricular septal defect, Supernumerary nipple, Hig... OMIM:618454
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... ORPHA:904
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Curly hair, Sacral dimple, Abnormal circulating thyroid hormone concentrati... ORPHA:480880
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Sparse eyebrow, Cryptorchidis... ORPHA:444072
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Recurren... ORPHA:77261
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ... ORPHA:3427
Nasolacrimal Duct Cyst
Fever, Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnor... ORPHA:141083
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture, Status epilepticus, Myoclonus OMIM:618201
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Abnormality of r... ORPHA:167
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Ankle flexion contracture OMIM:619985
Milroy Disease
Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Cellulitis ORPHA:79452
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Hypoglycemia, Seizure, Umbilical hernia, Aortic valve stenosis OMIM:614501
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Hypospadias, Cryptorchidism, Hyperammonemia, Respiratory insufficiency, Hyperten... OMIM:614052
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Hypospadias,... ORPHA:1596
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly OMIM:619259
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Seizure, Shawl scrotum, Pancrea... ORPHA:261265
Opitz Gbbb Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Recur... ORPHA:2745
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Myocardial infarction, Bilateral cryptorchidism, Sparse hair, Partial anom... OMIM:150230
Alopecia Antibody Deficiency
Recurrent respiratory infections, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Apl... ORPHA:1006
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Cryptorchidism, Excessive ski... ORPHA:2834
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Cryptorchidism, Hyperkalemia, Hypertension, Glycosur... ORPHA:97362
Fryns Syndrome
Bifid scrotum, Omphalocele, Stillbirth, Ectopic pancreatic tissue, Ventricular septal defect, Hyp... OMIM:229850
Pancreatitis, Hereditary
Fever, Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural e... OMIM:167800
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Recurrent respiratory infections, Diabetes mellitus, Small scrotum... OMIM:614231
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Periorbital wrinkles, Sparse hair, Heat intolerance OMIM:224900
Ullrich Congenital Muscular Dystrophy 1
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:254090
Ifap Syndrome 2
Ichthyosis follicularis, Nail dystrophy, Perioral erythema, Atrichia, Sparse hair OMIM:619016
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Joint contracture of the 5th finger, Attention deficit hyperactivity di... OMIM:619934
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Seizure, Atrial septal defect, Preauricular skin... OMIM:610536
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... OMIM:202650
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair OMIM:614940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope... OMIM:616084
Desmosterolosis
Aplasia/Hypoplasia of the skin, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venou... ORPHA:35107
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhini... OMIM:615225
Restrictive Dermopathy 2
Respiratory distress, Thickened skin, Scleroderma OMIM:619793
Reactive Arthritis
Aortic regurgitation, Fever, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency,... ORPHA:29207
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Low... OMIM:244300
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Abnormal lung lo... ORPHA:3097
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Tendon xanthomatosis, Hype... ORPHA:391665
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Anterior p... OMIM:615926
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Failure to thrive, Thrombocytopenia OMIM:230900
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... OMIM:619123
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Methylmalonic acidemia OMIM:614105
Oculoectodermal Syndrome
Hyperactivity, Epidermal nevus, Transient ischemic attack, Supernumerary nipple, Preauricular ski... OMIM:600268
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... OMIM:145250
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Dystrophic toenail, Uterine... ORPHA:1439
Goodpasture Syndrome
Fever, Crackles, Nodular pattern on pulmonary HRCT, Cough, Increased DLCO, Tachypnea, Restrictive... OMIM:233450
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Recurrent lower respiratory tract infections, Seizure OMIM:136630
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus,... OMIM:617022
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Micropenis, Small scrotum, Camptodactyly of finger OMIM:610756
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Thickened sk... OMIM:231050
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... OMIM:173200
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Redundant skin, Sparse or absent eyelashes, Breast aplasia, Hypop... ORPHA:1231
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hepatic fibrosis, Pulmonary hypop... OMIM:200995
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Alopecia, Sacral dimple, Hypoplasia of penis, Hypospadias, Curly eyela... ORPHA:3107
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... OMIM:245600
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... ORPHA:580
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Hypoplasia of penis, Respiratory distress, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Rodrigues Blindness
Sparse hair, Nasal flaring, Fine hair OMIM:268320
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia ORPHA:2140
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Preauricular pit, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormal hear... ORPHA:453499
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Vacterl/Vater Association
Bifid scrotum, Omphalocele, Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Cr... ORPHA:887
Limb-Mammary Syndrome
Alopecia, Absent nipple, Psoriasiform dermatitis, Sparse eyebrow, Primary amenorrhea, Bilateral b... ORPHA:69085
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax,... OMIM:620278
Cutis Marmorata Telangiectatica Congenita
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Displacement of the urethral meatus, ... ORPHA:1556
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypo... OMIM:226700
Familial Keratoacanthoma
Subcutaneous nodule, Skin ulcer, Hyperkeratosis, Adenoma sebaceum, Papule ORPHA:493
Ctcf-Related Neurodevelopmental Disorder
Sacral dimple, Inguinal hernia, Chronic lung disease, Highly arched eyebrow, Phimosis, Cryptorchi... ORPHA:363611
Barber-Say Syndrome
Dermal translucency, Absent nipple, Sparse eyelashes, Lipodystrophy, Redundant skin, Sparse eyebr... OMIM:209885
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Tetrasomy 12P
Sparse hair, Sparse eyebrow ORPHA:884
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Hepatomegaly, Self-muti... ORPHA:2388
Singleton-Merten Syndrome 2
Psoriasiform lesion, Aortic valve calcification, Hyperkeratosis, Arrhythmia, Aortic valve stenosis OMIM:616298
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L... OMIM:260920
Stüve-Wiedemann Syndrome
Respiratory distress, Sacral dimple, Apnea, Camptodactyly of finger, Asthma, Flexion contracture,... ORPHA:3206
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, ... ORPHA:2554
Viss Syndrome
Epidural hemorrhage, Right ventricular dilatation, Atrial septal defect, Emphysema, Hypothyroidis... OMIM:619472
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology, Abnormality of ... ORPHA:1131
Kniest Dysplasia
Respiratory distress, Hip contracture, Inguinal hernia, Tracheomalacia, Umbilical hernia OMIM:156550
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concen... OMIM:618733
Ellis Van Creveld Syndrome
Abnormal hair quantity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology,... ORPHA:289
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Conge... OMIM:302960
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Hypospadias, Ca... ORPHA:2008
Genitopalatocardiac Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal mesentery morphology, Abno... ORPHA:2075
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hyperkeratosis, Frontal upsweep of hair, B... OMIM:301220
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Hyperconvex nail, Sparse eyebr... ORPHA:1071
Trichorhinophalangeal Syndrome, Type I
Recurrent respiratory infections, Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine h... OMIM:190350
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Impotence, Seizure, Orthostatic hypotension due to autonomic dysfun... OMIM:105210
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Hypoplastic male external gen... ORPHA:1234
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... OMIM:603467
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Asymmetric, linear skin defects, Dilated cardiomyopat... OMIM:300952
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... ORPHA:466791
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Bone marrow hypocellularity, Alopecia, Nail dystrophy OMIM:616353
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia OMIM:608624
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru... OMIM:101800
Frontometaphyseal Dysplasia 2
Hip contracture, Thick eyebrow, Bicuspid aortic valve, Elbow contracture, Cryptorchidism, Patent ... OMIM:617137
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Bilateral tonic-clonic ... OMIM:618426
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Zinc Deficiency, Transient Neonatal
Alopecia, Decreased serum zinc OMIM:608118
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Oral-pharyngeal dysphagia, Synophrys, Seizure, Attention deficit hyperactivity dis... OMIM:300966
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Acanthocytosis, Retinal degeneration, Optic atrophy, Phonic tics, Depression, Pigm... OMIM:234200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Aggressive behavior, Cryptorchidi... OMIM:192430
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concen... OMIM:164310
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Myoclonic seizure, Respiratory ... OMIM:620327
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Synophrys, Hypospadias, Curly eyelashes, Highly arched eyebrow, ... OMIM:122470
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Portal hypertension, Cryptorchidism, Hypopigmented skin patches, ... OMIM:609136
De Sanctis-Cacchione Syndrome
Parakeratosis, Bilateral tonic-clonic seizure, Hypermelanotic macule, Bilateral cryptorchidism, T... OMIM:278800
Aplasia Cutis-Myopia Syndrome
Abnormal bleeding, Aplasia cutis congenita, Skin ulcer ORPHA:1117
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Abnormal lung lobation, Atrial septal... ORPHA:672
Xeroderma Pigmentosum Variant
Dry skin, Dermal atrophy, Telangiectasia ORPHA:90342
Caudal Regression Syndrome
Impulsivity, Maternal diabetes, Cryptorchidism, Hypertension, Pulmonary hypoplasia, Ambiguous gen... ORPHA:3027
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, Ex... ORPHA:3322
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Diabetes mellitus, Reduced subcutaneous ad... ORPHA:191
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Premature ovarian insufficiency, Absence of subcutaneous fat, Corn... OMIM:610965
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars... OMIM:250250
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Ring Chromosome 13 Syndrome
Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Primary hypothyroidism, Ambi... ORPHA:96176
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Ventricular septal defect, Bilateral tonic-clonic sei... OMIM:620024
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Cryptorchidism, Synophrys, Self-in... OMIM:616078
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Camptodactyly of finger, Phimo... ORPHA:2908
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Thickened skin, Respiratory insufficiency, Mitral valve prolaps... OMIM:614185
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hern... OMIM:613309
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Zimmermann-Laband Syndrome 1
Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys, Long pen... OMIM:135500
Beck-Fahrner Syndrome
Seizure, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly OMIM:618798
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Choking episode... ORPHA:137914
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Synophrys, Asthma, Nasal flaring, Generalize... ORPHA:466943
Oromandibular Dystonia
Respiratory distress, Dysphagia, Bruxism ORPHA:93958
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Inguinal hernia, Ventricular septal defect, Hypospadias, Bilateral tonic-clonic se... ORPHA:459070
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Absent eyelashes, Cryptorc... ORPHA:861
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Jacobsen Syndrome
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Cryptorchidism, Thr... ORPHA:2308
Tetrasomy 9P
Biliary atresia, Inappropriate behavior, Micropenis, Patent foramen ovale, Amelogenesis imperfect... ORPHA:3310
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... OMIM:207900
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Gastrointestinal hemorrhage, Raynaud phe... OMIM:613471
Yunis-Varon Syndrome
Sparse scalp hair, Redundant neck skin, Ventricular septal defect, Sparse eyelashes, Hypospadias,... ORPHA:3472
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Nai... OMIM:617088
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Seizure, Sparse hair, Joint contracture of the 5th finger... OMIM:164200
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Sparse body hair ORPHA:3068
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Hypospadias, Short nail, Apnea, Pretibial di... OMIM:114290
Cystic Fibrosis
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... OMIM:219700
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Abnormal bl... OMIM:163950
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion, ... OMIM:617300
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hyperactivity, Multiple joint contractures, Ventricular septal defect, Ante... ORPHA:464306
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Redundant neck skin, Focal-onset seizure, Typical absence seizure, Pseudohypoparat... OMIM:617157
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Sacral dimple, Abnormal heart valve morphology, Hypospadias, Hi... ORPHA:280
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Hypertension, Breast aplasia, Sparse hair, Type I diabetes mellitus ORPHA:2036
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Primrose Syndrome
Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion contracture, Glucose intol... OMIM:259050
Linear Nevus Sebaceus Syndrome
Seizure, Alopecia, Adenoma sebaceum, Melanocytic nevus ORPHA:2612
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Weig... ORPHA:29073
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Cryptorchidism, Widow's peak, Patent ductus arteriosus, S... OMIM:616975
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Simple f... ORPHA:464311
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cryptorchidism, Aortopulm... OMIM:620025
Branchiooculofacial Syndrome
Preauricular pit, Hypospadias, Supernumerary nipple, Cryptorchidism, Lower lip pit, Elbow flexion... OMIM:113620
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Abnormality of hair texture, Thickened... ORPHA:73223
Distal Duplication 17Q
Accessory spleen, Hyperactivity, Cryptorchidism, Low posterior hairline, Abnormal heart morpholog... ORPHA:3379
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Hypoplastic ... OMIM:613803
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anteri... OMIM:250410
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia ORPHA:98805
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Opitz Gbbb Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Cryptorchidism, Widow's peak, Aspiration... OMIM:300000
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... OMIM:208000
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right... OMIM:616894
Neurofibromatosis Type 1
Macule, Abnormal hair quantity, Abnormality of the endocrine system, Cryptorchidism, Precocious p... ORPHA:636
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Abnormalit... ORPHA:84
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Lipoatrophy, Hyperparakeratosis, Abnormality of the lymphatic system,... ORPHA:276280
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, External genital hypoplasia, Flexion contracture, Atrial septal defect, Hepa... ORPHA:96334
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Abnormal eyelash morpho... OMIM:147791
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Postauricular pit, Atrial septal defect,... OMIM:312870
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnormal magnes... OMIM:241150
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Mycetoma
Abdominal mass, Pelvic mass, Subcutaneous nodule, Abnormality of the lymphatic system, Cobbleston... ORPHA:2583
Retinitis Pigmentosa 75
Pallor OMIM:617023
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... ORPHA:1572
Pallister-Killian Syndrome
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... OMIM:601803
Osteoglophonic Dysplasia
Respiratory distress, Inguinal hernia, Hypospadias, Camptodactyly of finger, Hypoplastic toenails... OMIM:166250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Recurrent respiratory inf... OMIM:614748
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353281
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Granulomatous Disease, Chronic, X-Linked
Fever, Hepatomegaly, Liver abscess, Cough, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Atel... OMIM:306400
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Inguinal hernia, Aplasia/Hypoplasia of the skin, Hypospadias, External... ORPHA:2658
Meckel Syndrome, Type 1
Accessory spleen, Omphalocele, External genital hypoplasia, Malformation of the hepatic ductal pl... OMIM:249000
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... OMIM:619381
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia OMIM:612301
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Clitoral hypoplasia, Absent fingernai... OMIM:305600
Teebi-Shaltout Syndrome
Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Campt... OMIM:272950
Erythrokeratodermia Variabilis Et Progressiva 6
Erythematous plaque, Parakeratosis OMIM:618531
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis OMIM:615023
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Mend Syndrome
Hyperactivity, Sacral dimple, Aggressive behavior, Cryptorchidism, Elevated 8-dehydrocholesterol,... ORPHA:401973
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Recurrent pneumonia, Palmoplantar keratoderma, Anoperineal fistula, Nail dystrophy, Sca... ORPHA:158668
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Seizure ORPHA:438216
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorch... OMIM:614527
Lyme Disease
Fever, Skin nodule, Atrioventricular block, Dermal atrophy, Arrhythmia ORPHA:91546
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Highly arched eyebrow, Synophrys, Sparse hair, T... OMIM:609460
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Hypotension, Dysphagia, Inspiratory stridor ORPHA:100050
Robinow Syndrome
Small scrotum, Ventricular septal defect, External genital hypoplasia, Webbed penis, Cryptorchidi... ORPHA:97360
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Seizure ORPHA:28378
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Sparse scalp hair, Hypospadias, Highly arched eyebrow, Cryptorchid... OMIM:619325
Auriculocondylar Syndrome
Respiratory distress, Preauricular skin tag, Periauricular skin pits ORPHA:137888
Toriello-Carey Syndrome
Neonatal respiratory distress, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Cardiomy... ORPHA:3338
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Meier-Gorlin Syndrome 7
Ventricular septal defect, Hypospadias, Heart block, Cryptorchidism, Complete atrioventricular ca... OMIM:617063
Poland Syndrome
Diabetes mellitus, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Ab... ORPHA:2911
Renpenning Syndrome 1
Brittle hair, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Joint con... OMIM:309500
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Abnormal lung ... ORPHA:2166
Pfeiffer Syndrome Type 2
Respiratory distress, Seizure, Tracheomalacia ORPHA:93259
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Hypouricemia, Bicarbonaturia, Glycosuria, Hypokalemia, Decreased circulating carnit... ORPHA:3337
Myhre Syndrome
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... ORPHA:2588
Carpenter Syndrome 2
Bilateral cryptorchidism, Low anterior hairline, Knee flexion contracture, Atrial septal defect, ... OMIM:614976
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Tricuspid regurgitation, Patent ductus arteriosus, Cutis laxa, Atrophic scars, M... OMIM:614557
Leopard Syndrome 1
Bundle branch block, Hypospadias, Delayed menarche, Cryptorchidism, Complete atrioventricular can... OMIM:151100
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair OMIM:607812
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Fetal ascites, Neonatal asphyxia, Dyspnea, Wheez... ORPHA:141127
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit... ORPHA:1916
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Dysphagia, Anemia, Iron defi... ORPHA:79408
Wolf-Hirschhorn Syndrome
Accessory spleen, Preauricular pit, Sacral dimple, Ventricular septal defect, Aplasia cutis conge... OMIM:194190
Osteogenesis Imperfecta, Type X
Respiratory distress, Inguinal hernia, Recurrent pneumonia, Dentinogenesis imperfecta, Chronic lu... OMIM:613848
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Cryptorchidism, Telangiectasia, Chordee, Hypoplastic nipples, Umbili... OMIM:300519
Pfeiffer Syndrome Type 3
Respiratory distress, Seizure, Tracheomalacia ORPHA:93260
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Cryptorchidism, Hypospadias, Hyperuricemia OMIM:300661
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Hypop... ORPHA:261337
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri... OMIM:214800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Aspiration, Patent foramen ova... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Aspiration, Patent foramen ova... ORPHA:353277
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Patent ductus arteriosus, Tachypnea, Hypertension, Atrial septal defect, Pulmonar... OMIM:613834
Pachyonychia Congenita 1
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis OMIM:167200
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Abnormal bleeding, Sinusitis, Thrombocytosis, Pneumonia, Impaired neutrop... ORPHA:2968
Mend Syndrome
Hyperactivity, Sacral dimple, Redundant neck skin, Cryptorchidism, Spotty hypopigmentation, Seizu... OMIM:300960
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Patent ductu... ORPHA:138
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Compulsive behaviors, Atrial septal defect, Hypospadia... OMIM:135900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Subcutaneous nodule,... ORPHA:79280
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino... ORPHA:3404
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Hypospadias, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Synophrys, Hypop... ORPHA:495875
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of... ORPHA:3047
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Holoprosencephaly 1
Hypoglycemia, Adrenal hypoplasia, Seizure, Micropenis, Diabetes insipidus, Single ventricle OMIM:236100
Achondroplasia
Respiratory distress, Pulmonary hypoplasia, Upper airway obstruction OMIM:100800
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Raynaud phenomenon, Lymphadenopathy, Hypertension, Leukopenia, Seizur... ORPHA:536
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Retr... ORPHA:449563
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow ORPHA:560
Kabuki Syndrome 1
Preauricular pit, Hemolytic anemia, Ventricular septal defect, Bilateral tonic-clonic seizure wit... OMIM:147920
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... OMIM:615849
Wrinkly Skin Syndrome
Inguinal hernia, Short nail, Redundant skin, Cryptorchidism, Muscular ventricular septal defect, ... OMIM:278250
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Hypospadias, Highly arched eyebrow, Cryptorchidism, Male pseudo... ORPHA:2282
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital... ORPHA:564
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Specc1L-Related Hypertelorism Syndrome
Preauricular pit, Omphalocele, Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, ... ORPHA:1519
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Ankle flexion co... OMIM:268300
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Anemic pallor, Anemia ORPHA:329971
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Hypospadias, Supernumerary nipple, Hypoplastic toenails, Cryptorchidism, Synop... ORPHA:477993
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Ventricular septal defect, Dext... OMIM:300166
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Neonatal hypoglycemia, Sparse eyebrow, Micropenis, Broad eyebrow ORPHA:457359
Roberts Syndrome
Progressive flexion contractures, Cryptorchidism, Thrombocytopenia, Long penis, Knee flexion cont... ORPHA:3103
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ovotes... OMIM:309801
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Elevated circulating creatine kinase concentration, Sc... ORPHA:158684
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Trichotillomania
Hair-pulling, Alopecia, Compulsive behaviors OMIM:613229
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Dysosteosclerosis
Aplasia/Hypoplasia of the skin, Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1782
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair OMIM:118650
Ramon Syndrome
Enlarged labia minora, Telangiectasia, Hyperkeratosis, Seizure, Hypertrichosis OMIM:266270
Sympathetic Ophthalmia
Alopecia, Erythema, Retinal hemorrhage, Poliosis ORPHA:79098
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti... ORPHA:449432
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation ORPHA:314621
Hawkinsinuria
Sparse hair, Restlessness, Hypertyrosinemia OMIM:140350
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... OMIM:268130
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Seizure, Pallor, Elevated circulating creatine kinase concentration, Myoclonus OMIM:253280
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Cryptorchidism, Hypopigmented skin patches, Premature graying of ... OMIM:613266
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Abnormal morphology of female internal genitalia, Pulmonary hypoplasia ORPHA:1848
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Menke-Hennekam Syndrome 1
Inguinal hernia, Cryptorchidism, Flexion contracture, Recurrent upper respiratory tract infection... OMIM:618332
6Q Terminal Deletion Syndrome
Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Hyperkeratosis, Seizure ORPHA:75857
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Lacunar stroke, Hyperkeratosis, Dry skin, ... OMIM:609242
Behcet Syndrome
Genital ulcers, Raynaud phenomenon, Epididymitis, Erythema, Patchy alopecia OMIM:109650
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Hartsfield Syndrome
Hypospadias, Bilateral tonic-clonic seizure, Cryptorchidism, Gonadotropin deficiency, Micropenis,... OMIM:615465
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Hyperpigmented ... ORPHA:99646
Kindler Syndrome
Ridged nail, Telangiectasia of the skin, Phimosis, Spotty hypopigmentation, Palmoplantar hyperker... OMIM:173650
Cleidocranial Dysplasia 1
Respiratory distress, Enamel hypoplasia, Neonatal respiratory distress OMIM:119600
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Small scrotum, Ventricular septal defect, Enlarged labia mino... OMIM:606170
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Patent ductus arteriosus, Double inlet left ventricle, Sparse hair, Atrial septal... OMIM:619869
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Pachyonychia Congenita 3
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... OMIM:615726
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Epispadias, Aplasia/Hypoplasia of the skin, Hypospadias ORPHA:3339
Baller-Gerold Syndrome
Anomalous splenoportal venous system, Erythema, Perineal fistula, Abnormal heart morphology, Seiz... OMIM:218600
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... OMIM:182250
Penile Agenesis
Ambiguous genitalia, Ventricular septal defect, Maternal diabetes, Cryptorchidism, Bilateral lung... ORPHA:49
Isolated Arrhinia
Respiratory distress ORPHA:1134

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scg5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scg5.

No publications found that use IMPC mice or data for Scg5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Scg5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Scg5em1(IMPC)Mbp Intra-exon deletion Mice

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