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Gene: Trim37 MGI:2153072

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Gene Summary

Name:
tripartite motif-containing 37
Synonyms:
MUL,  TEF3,  1110032A10Rik,  2810004E07Rik

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
increased grip strength Trim37em1(IMPC)Marc HOM   Early adult 7.61×10-08
increased basophil cell number Trim37em1(IMPC)Marc HOM Early adult 4.99×10-06
decreased bone mineral content Trim37em1(IMPC)Marc HOM Early adult 2.00×10-19
decreased lean body mass Trim37em1(IMPC)Marc HOM Early adult 1.28×10-09
female infertility Trim37em1(IMPC)Marc HOM Early adult 0.00
abnormal retina morphology Trim37em1(IMPC)Marc HOM   Early adult 2.47×10-06
improved glucose tolerance Trim37em1(IMPC)Marc HOM Early adult 1.09×10-13
male infertility Trim37em1(IMPC)Marc HOM Early adult 0.00
increased total body fat amount Trim37em1(IMPC)Marc HOM Early adult 2.71×10-12
increased fasting circulating glucose level Trim37em1(IMPC)Marc HOM Early adult 5.33×10-05
decreased leukocyte cell number Trim37em1(IMPC)Marc HOM Early adult 5.52×10-07
thin ventricular wall Trim37em1(IMPC)Marc HOM   Early adult 2.53×10-05
decreased heart left ventricle size Trim37em1(IMPC)Marc HOM   Early adult 1.96×10-05
decreased mean platelet volume Trim37em1(IMPC)Marc HOM   Early adult 3.80×10-05
decreased bone mineral density Trim37em1(IMPC)Marc HOM Early adult 1.28×10-13
decreased lymphocyte cell number Trim37em1(IMPC)Marc HOM Early adult 1.08×10-07
decreased red blood cell distribution width Trim37em1(IMPC)Marc HOM Early adult 1.25×10-05
abnormal auditory brainstem response Trim37em1(IMPC)Marc HOM   Early adult 5.29×10-05
abnormal bone structure Trim37em1(IMPC)Marc HOM Early adult 1.32×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Trim37 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.

The table below shows human diseases associated to Trim37 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mulibrey Nanism
Hepatomegaly, Frontal bossing, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydro... OMIM:253250
Mulibrey Nanism
Hepatomegaly, Cachexia, Macrocephaly ORPHA:2576

The table below shows human diseases predicted to be associated to Trim37 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Microcephaly, Crypto... ORPHA:99812
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Failure to thrive, Diabetes mellitus, Telangiectasia ... ORPHA:100
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Metrorrhagia, Pelvic mass, Anorexia, Preco... ORPHA:370348
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Classic Galactosemia
Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism... ORPHA:79239
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Breast carcinom... ORPHA:157798
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... ORPHA:562
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hypert... ORPHA:79084
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased muscle mass, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decrea... OMIM:229070
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Insulin resistance, Obesit... OMIM:615703
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Maffucci Syndrome
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... ORPHA:163634
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Macrocephaly/Autism Syndrome
Hepatomegaly, Frontal bossing, Penile freckling, Large for gestational age, Splenomegaly, Obesity... OMIM:605309
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcin... ORPHA:902
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Hepatomegaly, Calf muscle pseudohypertrophy, ... ORPHA:79083
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the breast, Renal neoplasm, Pancreatic adenocarcinoma, Basal cel... ORPHA:440437
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Neoplasm, Eleva... OMIM:300068
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Nephroblastoma, Diasta... OMIM:130650
Lynch Syndrome
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... ORPHA:144
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated dia... ORPHA:275555
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... ORPHA:314478
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Dolichocephaly, Cryptorchidism, Hyperinsulinemia, Abnormal pan... ORPHA:2849
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Insulin resist... ORPHA:2348
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... OMIM:604367
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ... ORPHA:180229
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Mic... OMIM:614129
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Dehydration, Sex reversal, Ambiguous ge... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Dehydration, Sex... ORPHA:289548
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:163976
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, He... ORPHA:264580
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Hyperactivity, Camptodactyly of finger, Cachexia, Microcep... ORPHA:85293
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal hear... ORPHA:99776
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ... ORPHA:1333
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Calf muscle pseudohypertrophy, Hypertriglyceridemi... ORPHA:79086
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Pelvic mass, Soft tissue neoplasm... ORPHA:2126
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Decreased adiponecti... ORPHA:435660
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... ORPHA:400
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis, Polycystic ovaries OMIM:608709
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Cryptorchidism, Obesity, Weight loss,... ORPHA:251071
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Cowden Syndrome 1
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Progressive macrocephaly, Thyro... OMIM:158350
Megalencephaly
Atrial septal defect, Frontal bossing, Dolichocephaly, Long penis, Prominent occiput, Truncal obe... ORPHA:2477
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm of the breast, Macroc... ORPHA:137608
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal neoplasm, Weight loss, Dysphagia, Ascites ORPHA:2198
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian c... OMIM:246200
Bangstad Syndrome
Ataxia, Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries,... ORPHA:1227
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility OMIM:300604
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:79085
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm of the breast, N... ORPHA:2221
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Polyhydramnios, Visceral angiomatosis, Thrombocytopenia, Hydrops f... ORPHA:2123
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Edema, Cryptorchidism, Thrombocytopenia, Cholestasis, Perimembra... OMIM:608104
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Microcephaly, Splenomegaly, Flexion contracture, Cardiom... OMIM:608540
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Monosomy 18Q
Astrocytoma, Left-to-right shunt, Absence of the pulmonary valve, Slender build, Microcephaly, Bi... ORPHA:1600
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Facial telangiectasia, Ovarian neoplasm ORPHA:50944
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Increased m... OMIM:610717
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Ketotic hypoglycemia, Dysmenorrhea, Limb-girdle muscle weakness, Increas... ORPHA:79240
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Brain neoplasm, Prolonged QRS complex, Decreased response to growth horm... ORPHA:273
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Facial hypotonia, Microcephaly, Flexion contracture, Obesity, Choreoathetos... OMIM:300055
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Rhabdomyosarcoma, Large for g... ORPHA:77301
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Microcephaly, Splenomegaly, Ascites, Anemia, Ol... ORPHA:1046
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Gait disturbance, Congenital muscular dystrophy, Abnorma... ORPHA:1875
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev... OMIM:617872
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Fanconi Anemia, Complementation Group S
Ataxia, Microcephaly, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Failure to thrive, A... OMIM:617883
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Congestive heart failure, Abnorma... ORPHA:3077
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Primary hypercortisolism, Chroni... ORPHA:100079
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Elevated hepatic tra... OMIM:269700
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Microcephaly, Cryptorchidism, Increased circulating ... ORPHA:163971
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Medulloblastoma
Elevated hepatic transaminase, Ataxia, Cerebellar hemorrhage, Medulloblastoma, Progressive macroc... ORPHA:616
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, Relative macrocephaly OMIM:300428
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope... OMIM:155100
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Rudiger Syndrome
Frontal bossing, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Macrocephaly, Cardiomegaly OMIM:300886
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... OMIM:617253
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Cardiomegaly, Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypog... ORPHA:465508
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
16Q24.3 Microdeletion Syndrome
Frontal bossing, Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Mitral regurg... ORPHA:261250
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Abnormality of the menstrua... ORPHA:90308
Cowden Syndrome 6
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Progressive macrocephaly, Thyro... OMIM:615109
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Macrocephaly, Re... OMIM:300624
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Microcephaly, Polycystic ovaries, Truncal obesity, Attention def... ORPHA:284180
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hepatomegaly, Decre... ORPHA:280365
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Basal Cell Nevus Syndrome 1
Frontal bossing, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastom... OMIM:109400
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
49,Xyyyy Syndrome
Eunuchoid habitus, Turricephaly, External genital hypoplasia, Abnormality of the testis size, Imp... ORPHA:99330
Bohring-Opitz Syndrome
Facial hypotonia, Nephroblastoma, Trigonocephaly, Cardiomegaly, Microcephaly, Inability to walk, ... ORPHA:97297
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Abnormal reproductive system morphology, Congestive heart failure, Inability to walk, Bra... ORPHA:70472
Myotonic Dystrophy 2
Tachycardia, Weakness of facial musculature, Oligozoospermia, Right bundle branch block, Prematur... OMIM:602668
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Poems Syndrome
Diabetes mellitus, Lymphoproliferative disorder, Polycythemia, Thrombocytosis, Edema, Abnormality... ORPHA:2905
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Self-mutilation, Hepatome... OMIM:619487
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia, Fasting hypogly... ORPHA:2298
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventr... ORPHA:335
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Anorexia, Oral-pharyngeal dysphagi... ORPHA:100083
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Ventricular septal defect, Biparietal narrowing, Polycystic ovaries ORPHA:1770
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Hepatic... ORPHA:79474
Mantle Cell Lymphoma
B-cell lymphoma, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Microcep... ORPHA:858
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Orofaciodigital Syndrome Type 6
Frontal bossing, Ataxia, Hamartoma of tongue, Bilateral cryptorchidism, Abnormal heart morphology... ORPHA:2754
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P... ORPHA:494444
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Ataxia, Portal hyperte... ORPHA:1454
Fragile X Syndrome
Frontal bossing, Mitral valve prolapse, Self-injurious behavior, Attention deficit hyperactivity ... ORPHA:908
Macrocephaly-Intellectual Disability-Autism Syndrome
Frontal bossing, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcin... ORPHA:210548
Cowden Syndrome 5
Hyperthyroidism, Subcutaneous lipoma, Progressive macrocephaly, Thyroiditis, Breast carcinoma, Hy... OMIM:615108
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Impotence, Card... OMIM:606069
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism, Macrocephaly ORPHA:85320
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... OMIM:268020
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Vipoma
Anorexia, Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematoc... ORPHA:97282
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, ... ORPHA:3044
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Toluene Embryopathy
Cryptorchidism, Biparietal narrowing, Microcephaly ORPHA:1920
Basal Cell Nevus Syndrome 2
Frontal bossing, Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Macrocephaly... OMIM:620343
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Microcephaly, Cardiomyopathy, Myopathy, Lethargy, Failure to thrive, Hepati... ORPHA:26792
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Microcephaly, Polycystic ovaries ORPHA:1580
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Midface retrusion, Flat occiput, Ventricular septal defect, Polyhydramnios, Cryptor... ORPHA:1655
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Large ... ORPHA:276580
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Frontal bossing, Edema, Microcephaly, Pericardial effusion, Brac... OMIM:608776
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... ORPHA:90795
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Atax... ORPHA:453533
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Carcinoid tumor, Biliary tract obstruc... ORPHA:100085
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Macrocephaly OMIM:300706
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Bardet-Biedl Syndrome 19
Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Ob... OMIM:615996
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Brachycephaly, Dysmetria, Hypothyroidism, Hepatomegaly, Ataxia, Facial palsy, Aplasia/Hypoplasia ... ORPHA:456312
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Large for gestational age... ORPHA:276575
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hyper... OMIM:615381
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Cardiofaciocutaneous Syndrome
Frontal bossing, Abnormal heart valve morphology, Failure to thrive in infancy, Lymphedema, Crypt... ORPHA:1340
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... ORPHA:90790
Ppoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97278
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, ... OMIM:235255
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Cellulitis, Failure to thrive, Thrombocytopenia OMIM:617718
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Decreased c... ORPHA:90674
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger, Brachycephaly, Attention deficit hyperactivity dis... ORPHA:776
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Mulibrey Nanism
Hepatomegaly, Frontal bossing, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydro... OMIM:253250
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Hyperhidrosis,... ORPHA:86893
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Endocardial Fibroelastosis
Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Congestive heart failure, Endocardial fibroela... ORPHA:2022
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large for gestational age, Episod... ORPHA:324575
Fibrous Dysplasia Of Bone
Diabetes mellitus, Precocious puberty in females, Hyperthyroidism, Testicular neoplasm, Elevated ... ORPHA:249
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... OMIM:250790
Atkin-Flaitz Syndrome
Macroorchidism, Obesity, Macrocephaly ORPHA:1193
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Thrombocytopenia 1
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... OMIM:313900
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated... OMIM:269920
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Insulin resistance, Medulloblastoma, Hyperlipidemia, Abnormal... ORPHA:199276
Partington Syndrome
Macroorchidism, Gait disturbance, Facial telangiectasia ORPHA:94083
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Ataxia, Microcephaly, Increased circulating gonado... ORPHA:243
Craniosynostosis 1
Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Decreased serum testosterone concentrati... ORPHA:2959
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Splenomegaly, Flexion contracture, Hydrops fetalis... ORPHA:87876
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Elevated circulating aspartate aminotra... OMIM:257200
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Inability to walk, Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in low... ORPHA:63273
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Frontal bossing, Ataxia, Decreased response to growth hormone stimulation test, Small for gestati... ORPHA:3363
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... ORPHA:64739
Legius Syndrome
Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachyca... ORPHA:137605
Myh9-Related Disease
Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc... ORPHA:182050
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Clark-Baraitser syndrome
Macroorchidism, Frontal bossing, Obesity, Macrocephaly OMIM:300602
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Labial pseudohypertrophy, Insulin-resista... OMIM:151660
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple... ORPHA:98850
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... OMIM:240900
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Microcephaly, Cryptorchidism, Dehydrat... OMIM:618958
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Luscan-Lumish Syndrome
Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, Macrocephaly, Polyphagia OMIM:616831
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Primary ... OMIM:612526
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites ORPHA:890
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Failure to thrive, Microcephaly, Intrahepatic cholestasis, Ani... ORPHA:46059
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidros... ORPHA:276556
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Perlman Syndrome
Hypoglycemia, Renal hamartoma, Edema, Large for gestational age, Polyhydramnios, Cryptorchidism, ... OMIM:267000
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdom... ORPHA:834
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmoni... OMIM:619433
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... OMIM:203800
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Glioma... OMIM:251260
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... ORPHA:79237
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect, Microcephaly, Medulloblastoma, Neuroblastoma, Nephrob... OMIM:610832
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Central Precocious Puberty In Male
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Aggressive behavior, Pituitary mi... ORPHA:649929
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hepatic steatosis, Hyperactivity, Hypospadias, Ventricular septal defect, C... ORPHA:254346
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Splenomegaly, Congestive heart failure, Hydrops ... ORPHA:2414
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Gait disturbance, Hepatic steatosis, Foot dorsi... OMIM:618400
Glucagonoma
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev... ORPHA:97280
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Hydrops f... OMIM:232500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body weight, Neonat... ORPHA:1667
Lhermitte-Duclos Disease
Ataxia, Fibroadenoma of the breast, Ovarian neoplasm, Trichilemmoma, Macroglossia, Macrocephaly, ... ORPHA:65285
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:619048
17Q11.2 Microduplication Syndrome
Macroorchidism, Microcephaly ORPHA:139474
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Nonimmun... ORPHA:367
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Flat occiput, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, ... ORPHA:2232
Proteus-Like Syndrome
Thymus hyperplasia, Dolichocephaly, Splenomegaly, Abnormality of the parathyroid gland, Polycysti... ORPHA:2969
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, ... ORPHA:363400
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Lymphedema, Renal cyst, Neopla... ORPHA:744
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormality ... ORPHA:543
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Chylous Ascites
Neoplasm, Ascites, Pancreatitis, Lymphedema ORPHA:1160
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss ORPHA:2023
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Frontal bossing, Very long chain fatty acid accumula... OMIM:264470
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Small for gestational age, Cardiomegaly, Polyhydramnios, ... OMIM:616897
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... OMIM:231200
Perrault Syndrome 1
Ataxia, Increased circulating gonadotropin level, Primary amenorrhea, Gait ataxia, Gonadal dysgen... OMIM:233400
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular... ORPHA:818
Erythrokeratodermia Variabilis
Diabetes mellitus, Microcephaly, Weight loss, Neoplasm of the skin, Abnormal testis morphology ORPHA:317
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyop... ORPHA:79230
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... ORPHA:525731
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Lymphoma... OMIM:615122
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, P... OMIM:614702
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal... ORPHA:324410
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... ORPHA:69735
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Delayed puberty, Anemia, ... ORPHA:79259
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Jaundice, Congestive heart failure, Pulmon... ORPHA:615
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Adr... ORPHA:75233
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Foot dorsiflexor weakness, Hypergonadotropi... ORPHA:298
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Polyhydramnios, Facial ... OMIM:160900
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Renal cyst OMIM:174050
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... OMIM:614962
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re... ORPHA:137675
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Decreased muscle mass, Hypertriglyceridemia, Mi... OMIM:619013
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Microcephaly,... OMIM:210900
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Midface retrusion OMIM:615119
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hemangioma, Thrombocytopen... OMIM:112200
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Diastasis recti, Elevated circulating luteinizing ho... OMIM:618419
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Ataxia, Cache... ORPHA:42
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Biparietal narrowing, Renal cyst ORPHA:2031
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... ORPHA:231632
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr... ORPHA:53035
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Flat occiput, Ataxia, External genital hypoplasia, H... ORPHA:79322
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Midface retrusion, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, ... OMIM:616263
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Microcephaly, Progressive cerebellar ataxia, Failure to thrive ORPHA:67046
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... ORPHA:481
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Gener... ORPHA:171
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Pericardial effusion, Thromboc... ORPHA:77259
Short Syndrome
Frontal bossing, Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellit... OMIM:269880
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the nose, Enlarged polycystic... ORPHA:2869
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal muscle hy... OMIM:613877
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Palpebral edema, Obesity ORPHA:85286
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Abnormal glycosphingolipid metaboli... ORPHA:796
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Ataxia, Bilateral cryp... ORPHA:66634
His Bundle Tachycardia
Junctional ectopic tachycardia, Neoplasm of the heart, Arrhythmia, Cardiomyopathy ORPHA:3283
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Brachycep... OMIM:201750
Slc35A1-Cdg
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr... ORPHA:295
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Ataxia, Pericardial effusion, Splenomegaly, Angioe... ORPHA:36412
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Cardiomyopathy, Impotence, Cirrhosi... OMIM:604250
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Distal 22Q11.2 Microduplication Syndrome
Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodacty... ORPHA:261337
Mucolipidosis Type Iv
Ataxia, Microcephaly, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, Bip... ORPHA:578
Pituitary Gigantism
Frontal bossing, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, In... ORPHA:99725
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Micropenis, Failure to thrive, Cysto... OMIM:613861
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Ia
Edema, Flexion contracture, Renal cyst, Dysmetria, Hepatic fibrosis, Hypocholesterolemia, Hypothy... OMIM:212065
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Ataxia, Myocardial infarction,... ORPHA:3452
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Obesity And Hypopigmentation
Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... OMIM:619991
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... ORPHA:91351
Spermatogenic Failure 17
Male infertility OMIM:617214
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Camptodactyly of finger, Lymphedema, Steatorrhea, Polycystic ovaries,... ORPHA:2176
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Frontal bossing, Hyperactivity, Ventricular septal defect, Aggressive behav... OMIM:309520
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Increased circulating cortisol lev... ORPHA:189427
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... ORPHA:1041
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... ORPHA:247585
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... ORPHA:371428
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Reduced systolic function, Failure to thrive in infancy, Microcyt... OMIM:618805
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... ORPHA:369
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... ORPHA:97287
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Microcephaly, Visceral angiomatosis, Biparietal narrowing, Atria... ORPHA:1915
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Apert Syndrome
Frontal bossing, Cloverleaf skull, Ovarian neoplasm, Hypertension, Acrobrachycephaly, Brachyturri... ORPHA:87
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphoma, Hyperhidrosis, Lymphadenopathy, Weight lo... ORPHA:391
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Microcep... ORPHA:1194
Orofaciodigital Syndrome I
Frontal bossing, Hamartoma of tongue, Microcephaly, Pancreatic cysts, Dolichocephaly, Abnormal he... OMIM:311200
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Gait disturbance, Multiple lipomas ORPHA:2398
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... OMIM:278000
Macrocephaly, Benign Familial
Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly OMIM:153470
C Syndrome
Multicystic kidney dysplasia, Failure to thrive in infancy, Polyhydramnios, Midline facial capill... ORPHA:1308
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Calf muscle hypertrophy, Dysphagia, Limb muscle weakness, Testicular atrophy OMIM:313200
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... OMIM:615238
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... ORPHA:2470
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility, Ataxia OMIM:613909
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... OMIM:616860
Tetraploidy
Aplasia/Hypoplasia of the thymus, Biparietal narrowing, Microcephaly ORPHA:3305
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abno... OMIM:209900
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Lymphadenopa... OMIM:619418
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Hamartoma of tongue, Edema, Polyhydramnios, Splenomegaly... OMIM:269860
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... ORPHA:300373
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Akinesia, Cardiomegaly, Polyhydramnios, Splenomegaly, Th... OMIM:608013
Joubert Syndrome
Ataxia, Situs inversus totalis, Gait disturbance, Biparietal narrowing, Abnormality of the hypoth... ORPHA:475
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... ORPHA:201
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... OMIM:123500
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Cardiomegaly, Large for gestational age, Polyhydramnios, Congenital diaphr... ORPHA:116
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema,... ORPHA:381
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... OMIM:256810
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancr... ORPHA:276608
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Hyperlipidemi... OMIM:232400
Joubert Syndrome With Ocular Defect
Ataxia, Dextrocardia, Gait disturbance, Biparietal narrowing, Abnormality of the hypothalamus-pit... ORPHA:220493
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Dehydration, Choreoathetosis, Cardiomyopa... ORPHA:79312
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Di... ORPHA:93111
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Cho... ORPHA:99827
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Microcephaly, Secundum atrial s... OMIM:617397
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Car... OMIM:201475
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchym... ORPHA:1332
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Renal cyst OMIM:615987
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... ORPHA:79124
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Ovarian cyst, Menorrhagia, Joint... ORPHA:327
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Ataxia, Edema, Dysmetria, Telangiectasia, Hepatosplenomegaly, Abnorma... ORPHA:93400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Microcephaly, Mitral valve prolapse, Macrocephaly, Macroorchidism, Failure to thrive OMIM:618874
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Hypertriglyceridemia, Ovotestis, C... OMIM:610644
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Secondary microcephaly, Cystic renal dys... OMIM:613730
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Hypospadias, Cryptorchidism, Inability to walk, Unsteady gait, Brachycepha... ORPHA:3063
Peho Syndrome
Palpebral edema, Microcephaly, Flexion contracture, Pedal edema, Peripheral edema, Biparietal nar... ORPHA:2836
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Brachycephaly, Renal cyst, Abnormality of the liv... ORPHA:1606
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Hyperactivity, Ventricular septal defect, Microcephaly, Precocious puberty, Cryp... ORPHA:3306
Intellectual Disability, Buenos-Aires Type
Microcephaly, Abnormal calvaria morphology, Abnormal cardiac septum morphology, Biparietal narrow... ORPHA:3079
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Failure to thrive in infancy, Posteriorly rotated ears, Cryptorchidism, Thrombocytope... OMIM:611209
Necrotizing Enterocolitis
Shock, Small for gestational age, Edema, Peritonitis, Leukocytosis, Neutropenia, Abnormal heart m... ORPHA:391673
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Diabetes mellitus, Supraventricular arrhythmia, Cardiomyopathy, Difficulty walking, Leg muscle st... ORPHA:320360
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... ORPHA:699
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, True hermaphroditism, Nephroblastoma, Septate vagina, Congen... OMIM:194080
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Microcephaly, Decreased liver ... OMIM:246900
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... ORPHA:143
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Hypertension, Hypog... ORPHA:97229
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydratio... ORPHA:90794
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Congesti... ORPHA:85450
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Atrial septal defect, Multicystic kidney dysplasia, Frontal bossing, Vagina... ORPHA:1052
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... ORPHA:54251
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Abnormal mitral valve morphology, Microcephaly, Brachycephaly, Biparietal narrow... ORPHA:1292
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Ataxia, Situs inversus totali... OMIM:249270
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Gastrointestinal stroma tumor, Mediastinal ly... ORPHA:139411
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lower limb muscle weakness, Insulin resistance, Hyper... OMIM:615980
Hyperparathyroidism, Transient Neonatal
Frontal bossing, Hyperparathyroidism, Polyhydramnios, Brachycephaly, Ovarian cyst, Splenic cyst, ... OMIM:618188
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Mitral valve prolapse, Hypogonadism, Abnormal testis morphology ORPHA:2233
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Hypospadias, Craniosynostosis, Dolichocephaly, Abnormal muscle fiber morphology,... OMIM:175700
Isolated Atp Synthase Deficiency
Hepatomegaly, Ataxia, Microcephaly, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Lethargy, H... ORPHA:254913
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypert... OMIM:618815
Joubert Syndrome With Renal Defect
Abnormality of the hypothalamus-pituitary axis, Ataxia, Biparietal narrowing, Gait disturbance ORPHA:220497
Bardet-Biedl Syndrome 22
Microcephaly, Large for gestational age, Obesity, Hypogonadism, Macrocephaly, Polyphagia OMIM:617119
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Microcephaly, Splenomegaly, Adreno... OMIM:609981
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy ORPHA:26790
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly ORPHA:261190
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... OMIM:615710
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Premature ovarian insufficiency, Abnormality of the thyroid gland, Ragged-red ... OMIM:609286
Malignant Peritoneal Mesothelioma
Peritonitis, Pedal edema, Weight loss, Neoplasm, Ascites ORPHA:168811
Non-Distal Deletion 10Q
Ataxia, Biparietal narrowing, Gait disturbance ORPHA:1581
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Elevated circulating ... OMIM:618183
Cimdag Syndrome
Hepatomegaly, Ataxia, Microcephaly, Microvesicular hepatic steatosis, Hypogonadism, Primary micro... OMIM:619273
Johanson-Blizzard Syndrome
Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, El... OMIM:243800
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Failure to th... ORPHA:2394
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Frontal bo... OMIM:615438
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... ORPHA:66661
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100080
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregati... OMIM:124900
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Relative macrocephaly, Distal lower limb amyotrophy, Hyperactivity, Hypospadias, Aggressive behav... OMIM:300354
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Moynahan Syndrome
Hypogonadism, Cachexia, Microcephaly ORPHA:2574
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Cardiac arres... OMIM:212138
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Linear Nevus Sebaceus Syndrome
Frontal bossing, Cavernous hemangioma, Prominent occiput, Plagiocephaly, Adenoma sebaceum, Bipari... ORPHA:2612
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Edema, Disseminated cutaneous warts, Pericardial effusion, Abno... ORPHA:90362
Fumarase Deficiency
Relative macrocephaly, Frontal bossing, Failure to thrive, Polyhydramnios, Microcephaly, Intrahep... OMIM:606812
Wilson Disease
Acute hepatic failure, Edema, Pedal edema, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, H... OMIM:277900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Dolichoc... OMIM:614091
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Abnormality of the lymphatic system, Pulmonic stenosis, Dysphagia, Hypertrophic c... ORPHA:638
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Hepatic steatosis, Decreased proportion of C... OMIM:619573
Joubert Syndrome With Oculorenal Defect
Abnormality of the hypothalamus-pituitary axis, Ataxia, Biparietal narrowing ORPHA:2318
Takenouchi-Kosaki Syndrome
Inguinal hernia, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism, Sensor... OMIM:616737
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopeni... OMIM:620210
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, Weight loss, Brady... ORPHA:399
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, N... OMIM:617049
1Q44 Microdeletion Syndrome
Frontal bossing, Abnormal cardiac septum morphology, Biparietal narrowing, Microcephaly ORPHA:238769
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... ORPHA:746
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Alg8-Cdg
Elevated hepatic transaminase, Failure to thrive, Ataxia, Small for gestational age, Edema, Hydro... ORPHA:79325
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Jaundice, Xerostomia, Cirrhosis, Dysphagia, Ascites, Mu... ORPHA:779
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... ORPHA:69665
Digeorge Syndrome
Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyroid hormone level,... OMIM:188400
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, ... ORPHA:545
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Ataxia OMIM:208750
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... OMIM:613327
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... ORPHA:98908
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Neoplasm of the nervous system, Decreased body weight, Abnor... ORPHA:1672
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy, Ascites, Edema, Microcephaly OMIM:611719
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Frontal bossing, Multicystic kidney dysplasia, Cryptorchidism, Pic... OMIM:614527
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
3Q29 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Microcephaly, Obesity, Biparietal narrowing, Macroce... ORPHA:251038
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... ORPHA:99880
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Ragged-red muscle fibers, Gene... OMIM:613561
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Ob... OMIM:615981
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Acquired Partial Lipodystrophy
Myopathy, Insulin resistance, Hepatic steatosis, Lymphocytosis ORPHA:79087
Rabson-Mendenhall Syndrome
Atrial septal defect, Enlarged ovaries, Impaired glucose tolerance, Ventricular septal defect, Pr... ORPHA:769
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Increased circulatin... ORPHA:71212
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocyt... OMIM:226300
Noonan Syndrome 8
Relative macrocephaly, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Large for... OMIM:615355
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Cardio... OMIM:222300
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Lethargy, Hashimoto thyroiditi... ORPHA:199299
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul... ORPHA:500
Medulloblastoma
Medulloblastoma OMIM:155255
Trisomy 20P
Frontal bossing, Hypospadias, Camptodactyly of finger, Cryptorchidism, Brachycephaly, Plagiocepha... ORPHA:261318
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydration, Ambiguous genital... ORPHA:90791
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Hypoglycemia, Failure to thrive, Port... OMIM:613658
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... ORPHA:69077
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Cardiomyop... ORPHA:3463
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Hyperlipidemia, Pedal edema, Hydrocele ... ORPHA:567546
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Agg... ORPHA:84081
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Abnormal mitochondrial shap... ORPHA:17
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipom... ORPHA:276280
Primary Ciliary Dyskinesia
Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen... ORPHA:244
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Microcephaly, Right ventricular dilat... ORPHA:369840
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
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc... OMIM:614921
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... ORPHA:99828
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Dysphagia,... ORPHA:50251
Schaaf-Yang Syndrome
Frontal bossing, Failure to thrive in infancy, Impulsivity, Inability to walk, Cryptorchidism, Fl... OMIM:615547
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Limb joint contracture, Microcephaly, Splenomegaly... OMIM:301072
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Microcephaly, Biparietal narrowing, Hypohidrosis ORPHA:1005
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper... ORPHA:974
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... ORPHA:65682
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Hydrocele testis, Mitral regurgitati... OMIM:620244
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... ORPHA:2965
Gm1 Gangliosidosis
Frontal bossing, Ventricular septal defect, Ataxia, Camptodactyly of finger, Splenomegaly, Conges... ORPHA:354
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ascites, Micropenis, Failure to thrive OMIM:602361
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr... ORPHA:99829
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Oxycephaly, Hepatic fibrosis, Polysplenia, A... OMIM:200995
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Edema, Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Macro... OMIM:613224
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Abnormal calvaria morphology, Biparietal narrowing ORPHA:1323
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Von Hippel-Lindau Disease
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... ORPHA:892
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Dehydration,... ORPHA:213
Silver-Russell Syndrome
Abnormality of male external genitalia, Relative macrocephaly, Decreased muscle mass, Hypospadias... ORPHA:813
Focal Segmental Glomerulosclerosis 1
Edema, Hyperlipidemia, Hypertension, Pleural effusion, Ascites, Anemia OMIM:603278
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulin... ORPHA:263455
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, ... ORPHA:342
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Anorexia, Dehydration, Leukopenia, Recurrent hypoglycemia, Lethargy, Hepatomegaly, Ataxia,... ORPHA:20
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... ORPHA:398069
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ab... ORPHA:52430
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Unsteady gait, Truncal ataxia, Limb ataxia, Dysphagia, Distal amyotrophy, Hypogonadism, Type II d... ORPHA:412057
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Micro... ORPHA:353298
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Microcephaly, Pancreatic st... OMIM:617052
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Frontal bossing, Very long chain fatty acid accumula... OMIM:261515
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An... OMIM:224120
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... ORPHA:85443
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Hypohidrosis, Acute leukemia, Hypogonadism, Attention deficit hyperactivity disor... ORPHA:281090
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesi... ORPHA:110
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Polyhydramnios, Flexion contracture, Increased muscle lipid cont... ORPHA:171439
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Image Syndrome
Frontal bossing, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism ORPHA:85173
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Tricuspid regurgitation, Biparietal narrowing ORPHA:228396
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellit... OMIM:520000
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Ataxia, Splenomegaly, Cardiomyopathy, Focal T2 hyperintense thalamic lesion, A... OMIM:619046
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Isotretinoin Syndrome
Biparietal narrowing ORPHA:2305
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Hypogonadism, Lethargy, Decreased serum testosterone concentr... OMIM:201100
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Biparietal narrowing, Microcephaly ORPHA:2518
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Abnormal drin... ORPHA:209905
Congenital Macroglossia
Macroglossia, Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 31
Microcephaly, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increase... OMIM:617228
Distal Deletion 12Q
Frontal bossing, Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive i... ORPHA:96149
Mulibrey Nanism
Hepatomegaly, Cachexia, Macrocephaly ORPHA:2576
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Edema, Microcephaly, Cryptorchidism, Congestive heart failure, Locali... ORPHA:2505
Prader-Willi Syndrome
Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulation test, Exte... OMIM:176270
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Polyhydramnios, Congenital diaphragmatic hernia, Neopla... ORPHA:373
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function OMIM:616829
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Anorexia, Iron deficiency anemia, Atypical pulmonary ca... ORPHA:100075
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hypertrophic cardiomyopathy OMIM:620270
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Failure to thrive, Agitation, Compulsive behaviors OMIM:619651
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Weight loss ORPHA:141152
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Failure to thrive, Premature ovarian insufficiency, Cachexia, Micr... OMIM:610965
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Galactosemia I
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Dextrocardia
Abnormal EKG, Dextrocardia, Abnormal reproductive system morphology, Abnormality of the spleen, S... ORPHA:1666
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Hypospadias, Ataxia,... OMIM:305000
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Lymphedema, Anorexia, Splenomegaly, Hamartomatous polyposis, Neoplasm, Ma... ORPHA:2930
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Microcephaly, Cardiomyopathy, Decreased liver function, Failure to thrive, Thromboc... ORPHA:67048
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopa... ORPHA:228305
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Renal cyst, Choreoathetosis, Cardiomyopathy, Bo... ORPHA:445038
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Cryptorchidism, O... ORPHA:261265
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Frontal bossing, Splenomegaly, Scaphocephaly, Macrocephaly, Self-injurious behavior... OMIM:615637
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Aceruloplasminemia
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Akinesia, Congestive heart failure, Ab... ORPHA:48818
Gray Platelet Syndrome
Epistaxis, Myelodysplasia, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Erdheim-Chester Disease
Polydipsia, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Ataxia, Retroperitone... ORPHA:35687
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Polyhydramnios, Cryptorchidism, Abnormality of th... ORPHA:3376
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, Flat occiput, External genital hypoplasia, Dolichocephaly, Self-mutilation... ORPHA:3041
Renpenning Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Hypospadias, Cachexia, Microcephaly, Decreased testic... ORPHA:3242
Central Diabetes Insipidus
Anorexia, Dehydration, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hepatomegaly, Frontal bossing, Scapular winging, Hip contracture, Nonimmune hydrop... OMIM:620369
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphoproliferative disorder, Lymphedema, Abnormality of the spleen,... ORPHA:33276
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Skeletal muscle atrophy, Microc... ORPHA:508
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Intrahepatic cholestas... ORPHA:333
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Hema... ORPHA:101330
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Satoyoshi Syndrome
Microcephaly, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, ... ORPHA:3130
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia ORPHA:2582
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Eosinophilic Gastroenteritis
Eosinophilia, Edema, Leukocytosis, Steatorrhea, Weight loss, Hematochezia, Dysphagia, Ascites, An... ORPHA:2070
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... ORPHA:881
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Turricephaly, Palpebral edema, Cryptorchidism, Jau... OMIM:214110
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive ORPHA:172
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma,... ORPHA:538
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Relative macrocephaly, Failure to thrive, Impulsivity, Microcephaly, Overweight, Cryptorchidism, ... ORPHA:500055
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Ataxia, Microcephaly, Left ventricular noncompaction, Hypertrophic car... OMIM:615917
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Macrovesicular hepatic st... OMIM:608836
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... OMIM:619518
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Hypospadias,... ORPHA:912
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Microcephaly, Cryptorchi... OMIM:227646
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Ataxia, Edema, Microcephaly, Cryptorchidism, Hypogonadism, Ad... OMIM:617575
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy, Hypogonadism OMIM:254000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Polyhydramnios, Microvesicular he... OMIM:617156
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati... ORPHA:417
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... ORPHA:142
Hypermethioninemia Due To Adenosine Kinase Deficiency
Frontal bossing, Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating ala... OMIM:614300
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... OMIM:606003
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly OMIM:604273
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... ORPHA:97685
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac dea... ORPHA:99901
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thickened calvaria, Frontal bossing, Relative macrocephaly, Ventricular septal defect, Left ventr... OMIM:300967
Joubert Syndrome 37
Hepatomegaly, Frontal bossing, Cryptorchidism, Obesity, Micropenis, Decreased testicular size OMIM:619185
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter OMIM:617577
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Microcephaly, Splenomegaly, Inab... OMIM:225750
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Flat occiput, Ataxia, Ankle flexion contracture, Spl... OMIM:608799
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... ORPHA:33543
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis OMIM:619462
Bardet-Biedl Syndrome 17
Polydipsia, Dextrocardia, Situs inversus totalis, Obesity, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Polyhydramnios, Hydrocele testis, Hypertrophic cardiomyopathy, Hypocholesterolemia,... OMIM:618810
Mcdonough Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia ORPHA:2471
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Frontal bossing, Diabetes mellitus, Failure to thrive in infancy,... OMIM:219800
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem... ORPHA:904
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Hypogly... ORPHA:26791
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Microcephaly, Splenomegal... OMIM:259720
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... OMIM:617780
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... OMIM:261680
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Microcephaly, Bradycardia, Hypertrophic cardiomyopathy, Failure to ... OMIM:618235
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia ORPHA:85447
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis... OMIM:215600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Microcephaly, Primary amenorrhea, Delayed thelarche, Delayed puberty, Hyperins... OMIM:616033
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Monosomy 13Q34
Metrorrhagia, Epistaxis, Microcephaly, Insulin resistance, Obesity, Hematochezia, Pulmonic stenos... ORPHA:96168
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:613752
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes... OMIM:608099
Fanconi Anemia
Leukopenia, Abnormality of the liver, Neoplasm, Abnormality of the uterus, Atrial septal defect, ... ORPHA:84
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Impulsivity, Microcephaly, Precocious puberty, Brachycephaly, Tip-toe gait, Agitation, At... OMIM:619950
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope... ORPHA:3240
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Syndromic Diarrhea
Inguinal hernia, Small for gestational age, Bicuspid aortic valve, Increased mean platelet volume... ORPHA:84064
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Facial capillary hemangioma, Renal cyst, Hypocholesterolemia, Atria... OMIM:270400
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... ORPHA:3208
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Dysphagia, Supraventricular tachy... OMIM:255100
Bardet-Biedl Syndrome 9
Polydipsia, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Polyhydramnios, Renal cyst, Cardiomyopathy, Myopathy, Decreased liver function, Let... OMIM:614922
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ... ORPHA:97214
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomy... ORPHA:1177
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Microcephaly, Cryptorchidism, Trunca... ORPHA:127
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Cachexia, Splenomegaly, Refractory anemia with ringed si... ORPHA:1133
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Dilated cardiomyopathy, Flexion contracture, Ragged-red muscle fibers, Left ventricular n... OMIM:252011
Noonan Syndrome 5
Polyhydramnios, Large for gestational age, Dolichocephaly, Cryptorchidism, Macrocephaly, Arrhythm... OMIM:611553
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function, Congenital portosystemic venous shunt, Persistent pa... OMIM:601466
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Dehydration, C... OMIM:606054
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Microcephaly, S... ORPHA:2585
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Ataxia, Supernumerary nipple, Decreased fertility, Brachycephaly, ... ORPHA:1173
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Neoplasm, Menorrhagia ORPHA:168816
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... OMIM:619260
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Lymphedema, Hamartomatous polyposis, Int... ORPHA:109
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Ventricular septal defect, Small for ge... OMIM:301056
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts... OMIM:610199
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper... OMIM:231530
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
2P21 Microdeletion Syndrome
Frontal bossing, Failure to thrive, Hypogonadism, Hypoglycemia ORPHA:163693
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Dehydration, Choreoathetosis, Leukopen... ORPHA:27
Ochoa Syndrome
Cryptorchidism, Polydipsia, Hypertension ORPHA:2704
Propionic Acidemia
Hepatomegaly, Arrhythmia, Hypoglycemia, Cardiomyopathy ORPHA:35
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Frontal bossing, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Fa... ORPHA:1842
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Microcephaly, ... ORPHA:85323
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiac Lipidosis, Familial
Congestive heart failure, Microcephaly, Cardiomyopathy OMIM:212080
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis, Cerebral ... OMIM:201450
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Ataxia, Myelodysplasia, Microcephaly, Cerebral ischemia, Agitation, Lethargy, Failu... ORPHA:927
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Rhabdomyolysis, Hematochezia, Choles... ORPHA:79095
Jacobsen Syndrome
Flat occiput, Hypospadias, Ventricular septal defect, Trigonocephaly, Microcephaly, Cryptorchidis... OMIM:147791
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... ORPHA:79301
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... ORPHA:98907
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Hypersexuality, Hodgkin lympho... ORPHA:217253
Hsd10 Mitochondrial Disease
Restlessness, Hypoglycemia, Aggressive behavior, Abnormal mitochondrial morphology, Choreoathetos... OMIM:300438
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Ataxia, Mi... OMIM:203700
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathy... OMIM:239200
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased hema... ORPHA:284227
Bardet-Biedl Syndrome 8
Hypospadias, Situs inversus totalis, Brachycephaly, Obesity, Hypogonadism OMIM:615985
Chronic Hiccup
Abnormal eating behavior, Abnormality of the diaphragm, Dehydration, Weight loss ORPHA:396
Rothmund-Thomson Syndrome, Type 2
Frontal bossing, Small for gestational age, Cryptorchidism, Squamous cell carcinoma, Telangiectas... OMIM:268400
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Pedal edema, Ataxia, Abnormal pericardium morphology, Por... ORPHA:284
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Polyphagia, Hypertension, Type II diabetes melli... ORPHA:71529
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Myocarditis, Hepatitis, Large vessel vasculitis, A... ORPHA:728
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Anorexia, Reticulocytopenia, Hydrops fetalis, Dehydration, Neutropenia, Let... OMIM:557000
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Costello Syndrome
Thickened Achilles tendon, Ventricular septal defect, Failure to thrive in infancy, Polyhydramnio... ORPHA:3071
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Leukopenia, Neutr... OMIM:251000
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Abnormality of the thyroid gland, Jaundice, Hepatit... ORPHA:186
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Tenorio Syndrome
Hypoglycemia, Raynaud phenomenon, Macroglossia, Syncope, Gait disturbance, Macrocephaly, Hypoinsu... OMIM:616260
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... OMIM:209950
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Cardiac arrest, Premature thelarche, Ataxia, Microce... OMIM:616878
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... OMIM:193700
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Waddling gait, Elevated circulating aspar... OMIM:300280
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumu... OMIM:616828
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Microcephaly, Cholestasis, Hepatosplenomegaly, ... ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Sudden cardiac... ORPHA:537
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Bicuspid aortic valve, Tics, Compulsive behaviors, Micropenis, Hepatic steatosis, ... OMIM:619475
Cockayne Syndrome Type 2
Hepatomegaly, Ataxia, Cryptorchidism, Flexion contracture, Gait disturbance, Difficulty walking, ... ORPHA:90322
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Cardiomyopathy, Facia... ORPHA:171433
Noonan Syndrome 2
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryptorchidism... OMIM:605275
Pituitary Carcinoma
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... ORPHA:300385
Microsporidiosis
Myositis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathyroid gland,... ORPHA:2552
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Biparietal narrowing, Anemia ORPHA:935
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Polyhydramnios, Macrocephaly, Ambiguous genitalia... OMIM:615503
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Microcephaly, Cryptorchidis... ORPHA:251066
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Hyperhidrosis, Dextrotransposition of the great a... ORPHA:860
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Edema, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic an... OMIM:615846
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptorchidism, Obesity, Brachycephaly, A... ORPHA:96263
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Diabetes mellitus, Increased mitochon... ORPHA:263297
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Microcephaly, Splenomegal... OMIM:613489
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Polyhydramnios, Microcephaly, Congestive heart failure, Thrombocytopenia, Flexion contrac... OMIM:616271
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... ORPHA:486
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ... OMIM:151623
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... OMIM:607330
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... OMIM:619534
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Azoosp... ORPHA:300298
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Flexion contracture, Hypogonadism, Microcephaly OMIM:251240
Gitelman Syndrome
Maternal diabetes, Hyperhidrosis, Glucose intolerance, Iron deficiency anemia, Prominent U wave, ... ORPHA:358
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Bloom Syndrome
Neoplasm, Neoplasm of the breast, Male infertility, Decreased proportion of CD4-positive T cells,... ORPHA:125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Muscle fiber atrophy, Facial palsy, Weakness of facial musculature, Ragg... OMIM:258450
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp... ORPHA:274
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Elbow flexion contracture,... OMIM:618440
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy, Hypothyroidism OMIM:619647
Noonan Syndrome 12
Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia OMIM:618624
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... ORPHA:1414
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Aspartylglucosaminuria
Hepatomegaly, Microcephaly, Vacuolated lymphocytes, Brachycephaly, Macroglossia, Mitral regurgita... OMIM:208400
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Ataxia, Edema, Anorexia, Leukocytosis, Dehydration, Weight loss, Hype... ORPHA:134
Activated Pi3K-Delta Syndrome
Hepatomegaly, Microcephaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lym... ORPHA:397596
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Renal cortical cysts, Macrocephaly, Polycystic kidney dyspl... OMIM:231680
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Adrenal hypoplasia, Morgagni diaphragmatic... OMIM:613177
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, B-cell lymphoma, Edema, Right ventricular failure, Lymphedema, Lymphoma, C... ORPHA:90363
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilated car... OMIM:619167
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... OMIM:611126
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Skeletal muscle steatosis, Gait disturbance, Decreased liver function, Glyc... ORPHA:436271
Niemann-Pick Disease Type C
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, J... ORPHA:646
Alagille Syndrome
Hepatomegaly, Frontal bossing, Ventricular septal defect, Telangiectasia of the skin, Cryptorchid... ORPHA:52
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, M... ORPHA:2255
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphopenia, Camptodactyly of finger, Craniosynost... ORPHA:2136
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakn... ORPHA:86812
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Microc... OMIM:227650
Mirage Syndrome
Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Hypoglycemia, Myelodysplasia,... OMIM:617053
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Pulmonary edema, External genital hypoplasia, Edema, Cardiome... ORPHA:79330
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Microcephaly, Rhabdomyolysis, Ventricular ... ORPHA:159
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... ORPHA:171876
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Anorexia... ORPHA:3287
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Microcephaly, Secundum atrial septal defect, ... OMIM:609069
Brucellosis
Liver abscess, Anorexia, Hyperhidrosis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leuko... ORPHA:1304
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Microcephaly, Cryptorchidis... ORPHA:263487
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Microcephaly, Splenomegaly, Congestive heart failure, Thrombocytopenia, Inability t... OMIM:617303
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Ataxia, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Mela... ORPHA:1183
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Microc... ORPHA:564
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Flexion contr... ORPHA:487796
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy, Steppage gait OMIM:610100
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Ataxia, Ragged-red muscle fibers, Dysphagia, Loss o... OMIM:607426
Melas
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue,... ORPHA:550
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia OMIM:601163
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Brachy... OMIM:619503
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... ORPHA:156
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Microcephaly, Insulin resistance, Truncal... ORPHA:73272
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Card... OMIM:618278
Trichohepatoenteric Syndrome 1
Small for gestational age, Ventricular septal defect, Increased mean platelet volume, Splenomegal... OMIM:222470
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Gait ataxia, Delayed puberty, Hypertrophic cardiomyopathy, Lower limb amyotrophy,... ORPHA:496790
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
H Syndrome
Histiocytosis, Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Abnormal cardiovascula... ORPHA:168569
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, Hy... OMIM:300942
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Microcephaly, Splenomegaly, Jaundi... ORPHA:290
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Ataxia, Myocardial inf... ORPHA:117
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight ... ORPHA:330001
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Infantile Refsum Disease
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Facial palsy, Cardiomyopathy, Arrh... ORPHA:772
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusio... ORPHA:464329
Ring Chromosome 12 Syndrome
Small for gestational age, Microcephaly, Secundum atrial septal defect, Cryptorchidism, Glandular... ORPHA:1439
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Hypot... ORPHA:412
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Small scrotum, Cryptorchidism, Brachycephaly, Hypogonadism, Coronal craniosynost... ORPHA:228390
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Frontal bossing, Skeletal muscle atrophy, Ataxia, Facial palsy, Cach... ORPHA:1328
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Weight loss, Pleural effusion, Hypotension,... ORPHA:188
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptorchidism, Brachycephaly, Azoospermi... ORPHA:96264
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Flat occiput, Hypospadias, Ventricular septal defe... OMIM:214100
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Leukopen... ORPHA:93552
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormality of the liver ORPHA:391457
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Lymphoma, Thyroiditis, Steatorrhea, Wei... OMIM:212750
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Cholestasis, Obesity OMIM:616629
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Microcephaly, Cryptorchidism, ... ORPHA:264450
Thymoma
Myositis, Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Imbalanced hemoglobi... ORPHA:99867
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Normocyti... OMIM:300972
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Hepatomegaly, Normocytic anemia, Pancytopenia, Myelodysplasia, Anemia of ... ORPHA:75564
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites ORPHA:584
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ... ORPHA:609
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Obesity, Abnormal t... ORPHA:163681
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leuko... ORPHA:90065
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Microcephaly, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Micr... OMIM:619321
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Lymphedema, Hydrocele testis OMIM:620014
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Myelodysplasia, Portal hyp... ORPHA:729
Tuberculosis
Weight loss ORPHA:3389
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cachexia, Microcepha... ORPHA:217346
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, S... OMIM:131100
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Cryptorchidism, Neurofibroma, Macrocephaly, Plexiform neurofibroma... OMIM:601321
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Scarring, Cryptorchidism, Macrotia, ... ORPHA:90321
Aicardi Syndrome
Microcephaly, Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosa... OMIM:304050
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decrease... ORPHA:79319
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Hyperlipidemia, Hepatic calcification, Cardiomyopathy, P... ORPHA:228308
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Macrocytic anemia, Diabetes mellitus, Ataxia, Scapular winging, Myopathy... ORPHA:98673
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
C Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Cryptorchidism, Renal cortical cysts, Trig... OMIM:211750
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Microcephaly, Limb-girdle muscle weakness, Flexion contr... OMIM:609308
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hemolytic anemia, Aplastic an... ORPHA:398124
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Microcephaly, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mell... ORPHA:401768
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Frontal bossing, Decreased heart rate variabili... OMIM:619005
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonar... ORPHA:60025
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia, Polyhydramnios, Contrac... ORPHA:329178
Transketolase Deficiency
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Abnormal repetitive mannerisms, Se... ORPHA:488618
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Gait imbalance, Dy... ORPHA:329336
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... ORPHA:79277
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit... OMIM:618858
Gabriele-De Vries Syndrome
Waddling gait, Distal lower limb amyotrophy, Small for gestational age, Decreased response to gro... ORPHA:506358
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Ha... OMIM:263520
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Bradykine... ORPHA:254886
Hec Syndrome
Polyhydramnios, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia ORPHA:2119
Deeah Syndrome
Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio... OMIM:619004
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Microcephaly OMIM:616647
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphoma, Lymphadenopathy, Weight los... ORPHA:47612
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Atrioventricular block, Atrial septal defect, Lethargy, Patent foramen o... ORPHA:26793
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Frontal bossing, Bicuspid aortic valve, Polyhydramnios, Lymphed... OMIM:613563
Ruijs-Aalfs Syndrome
Frontal bossing, Skeletal muscle atrophy, Hepatocellular carcinoma, Elbow flexion contracture, Hy... OMIM:616200
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism ORPHA:202
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Skull asymmetry, Secondary microcephaly, Hypertrophic ... OMIM:612938
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardi... OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Cyanosis, Hypospadias, Hypoglycemia, Ataxia, Microcephaly, Skele... OMIM:252010
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy, Ataxia OMIM:275630
Emanuel Syndrome
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... ORPHA:96170
Bohring-Opitz Syndrome
Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Trigonocephaly, Microcephaly, Fl... OMIM:605039
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Adrenomyodystrophy
Primary adrenal insufficiency, Myopathy, Failure to thrive, Hepatic steatosis ORPHA:977
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Telangiectasia of the skin, Capillary hemangioma, Displacement of t... ORPHA:1556
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Attention deficit hyperactivity diso... ORPHA:369873
Christianson Syndrome
Decreased muscle mass, Cachexia, Microcephaly, Dysphagia, Gait ataxia, Inappropriate laughter, Tr... ORPHA:85278
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturi... OMIM:137920
Alexander Disease Type I
Ataxia, Cachexia, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Dysphagia, Fa... ORPHA:363717
Nephroblastoma
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Hypertension, Neoplasm, Weight loss... ORPHA:654
Abetalipoproteinemia
Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis, Hypocholesterolemia, Hypot... ORPHA:14
Sneddon Syndrome
Atrophic scars, Lymphopenia, Bicuspid aortic valve, Facial palsy OMIM:182410
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Eosinophi... OMIM:616651
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Atrial septal defect, Lethargy, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricus... OMIM:614866
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Fatal liver failure in infancy, Lethargy ORPHA:254857
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Microvesicular hepatic steatosis, Aortic valve atresia, Dysmetria, Increas... OMIM:220111
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Ataxia, Cardiomegaly, Microcephaly, Cryptorchidism, In... OMIM:618143
Cyclic Vomiting Syndrome
Ataxia, Anorexia, Microcephaly, Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy OMIM:500007
Distal Myotilinopathy
Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo... ORPHA:98911
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Large for gestational age, Cryptorchidism, Pulmonic st... OMIM:610733
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anore... ORPHA:781
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Polyhydramnios, Large for gestational age, Microcephaly, Microvesi... OMIM:300868
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Relative macrocephaly, Hepatomegaly, Pancytopenia, Frontal bossing, Failure to thrive in infancy,... OMIM:613385
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Steppage gai... ORPHA:399086
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Inability to walk, Athetosis, Gait disturbance, Secondary microcephaly, Loss of amb... OMIM:618241
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Vaginal hernia, Microcephaly ORPHA:3173
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Myelodysplasia, Lymphedema, Pancreatic cysts, Abnorma... ORPHA:1318
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm... OMIM:614874
Camurati-Engelmann Disease, Type 2
Waddling gait, Skeletal muscle atrophy, Hip contracture, Mitral valve prolapse, Knee flexion cont... OMIM:606631
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Elevated hemoglobin A... OMIM:616113
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Frontal bossing, Facial palsy, Splenomegaly, Anemia, Macrocephaly, Failure to thriv... OMIM:615085
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Mic... OMIM:613404
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... OMIM:606176
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Pulmonary embolism, Jaundice, Hyperl... ORPHA:444490
Maternally-Inherited Diabetes And Deafness
Ataxia, Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertroph... ORPHA:225
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Ataxia, Small for gestationa... OMIM:615471
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio... OMIM:613807
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Abnormal pinna morphology,... OMIM:216400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Macroglossia, Macroorchidism, Thickened calvaria ORPHA:93
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Ataxia, Hypovolemia, Dehydration... ORPHA:99885
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Ataxia, Cardiomegaly, Hyperhidros... OMIM:268800
Autosomal Dominant Progressive External Ophthalmoplegia
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, Ab... ORPHA:254892
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Mitral valve prolapse, Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... ORPHA:90003
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Edema, Renal cyst, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyp... OMIM:602579
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... OMIM:212112
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti... ORPHA:449432
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Ventricular septal defect, Craniosynostosis, Microc... ORPHA:2745
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Thickened calvaria, Anemia OMIM:618107
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Truncal ataxia, Hypertrophic cardiomyopathy, Decreased liver function, Incr... OMIM:220110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Microcephaly, Inability to walk, Flexion contracture, Abnormal left ventricular fun... OMIM:613155
Rothmund-Thomson Syndrome Type 1
Calcinosis, Premature ovarian insufficiency, Aplastic anemia, Small for gestational age, Myelodys... ORPHA:221008
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Failu... ORPHA:1018
Sotos Syndrome
Astrocytoma, Neonatal hypoglycemia, Flexion contracture, Pedal edema, Neoplasm, Increased head ci... ORPHA:821
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Flexion cont... ORPHA:3409
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... ORPHA:2088
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Abnormalit... ORPHA:1775
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Microcephaly, Cryptorchidism, Insulin resistance, Di... OMIM:616541
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Oligohydramnios, Pancreatic aplasia, Pancreatic hyp... OMIM:260370
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... ORPHA:209902
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Frontal bossing, Streak ovary, Hypospadias, Myeloid leukemia, Nephroblas... ORPHA:798
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... ORPHA:2848
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Broad-based gait, Cac... ORPHA:2072
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ataxia, Ganglioneuroblastoma, Weight loss, Hypertension, Neuroblastoma, Failure t... OMIM:256700
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Facial palsy, Supernumerary nipple, Polyhydra... ORPHA:261349
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Hypoglycemia, Cardiomegaly, Microcephaly, Choreoathetosis, Dysphagia, Los... ORPHA:391428
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Abnormal mitochondrial morphology, Hypertrophic cardiomyopathy, F... OMIM:618378
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cardiac arrest, Microcephaly, Cryptorchidism, Congestive heart fai... OMIM:212720
African Trypanosomiasis
Choreoathetosis, Hepatomegaly, Abnormal EKG, Abnormality of the endocrine system, Hepatosplenomeg... ORPHA:3385
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Ce... ORPHA:514
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Obesity, Chole... OMIM:615630
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, EMG: myopathic ... ORPHA:71
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Fasting hypoglycemia, Hep... ORPHA:348
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Frontal bossing, Ventricular septal defect, Polyhydramnios, Sag... OMIM:609942
Dubowitz Syndrome
Hyperactivity, Hypospadias, Aplastic anemia, Microcephaly, Cryptorchidism, Lymphoma, Acute lympho... OMIM:223370
Somatomammotropinoma
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... ORPHA:314769
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Failure to thrive, Microcephaly, Steatorrhea, Neutropenia, Hyper... OMIM:617941
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphoma, Thyro... ORPHA:39041
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Anorexia, Phimosis, Flexion contracture, Xerostomia,... ORPHA:99921
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Hyperlipidemia, ... OMIM:214900
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Hashimoto thyroiditis, Anorexia, Large vessel vasculitis, Renovascular hyperte... ORPHA:49041
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... ORPHA:100078
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Failure to th... ORPHA:5
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypo... ORPHA:33355
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Polyhydramnios,... OMIM:229850
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Relative macrocephaly, Hyperactivity, Ventricular septal defect, Polyhydram... OMIM:607721
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Renal cyst... OMIM:616975
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Wei... ORPHA:47
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congesti... ORPHA:2326
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Monosomy 22
Aplasia of the thymus, Microcephaly, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegal... ORPHA:96123
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Vasculi... OMIM:308240
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Central hypothyroidism, Dehydration, Primary hypothyroidism, Steatorrhe... ORPHA:95427
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Microcephaly, Biliary hyperplasia, Cry... ORPHA:83617
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... OMIM:608747
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Adrenal calcification, Failure to t... ORPHA:51608
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial ... ORPHA:1909
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congestive heart failure, Lymp... ORPHA:3386
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart fai... ORPHA:94080
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ataxia, Microcephaly, Ragged-red mus... OMIM:530000
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Hyperlipidemia, Vacuolated lympho... ORPHA:565612
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Acromegaly
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... ORPHA:963
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Small for gestational age, Abnormal pinna morphology, Abnorm... OMIM:133540
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build OMIM:613662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Microcephaly, Inability to wa... OMIM:615356
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, O... ORPHA:95409
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Flat occiput, Hypospadias, Ataxia, Small for gestational age, Cryptorchidism, Hypertension, Arrhy... OMIM:614052
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Generalized amyotrophy, Hyp... ORPHA:79279
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop... OMIM:618986
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating growth hormone concentration, Ede... ORPHA:2796
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... OMIM:615935
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Flat occiput, Inability to walk, Flexion contracture, Gait ataxia, Plagiocephaly, A... OMIM:619383
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Craniosynostosis, Microcephaly, Cryptorchidism, Hypogonadism ORPHA:178303
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... OMIM:608358
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Dysme... OMIM:617710
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... OMIM:617713
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Edema, Splenomegaly, Leukocytosis, Flexion... ORPHA:77297
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Myelodysplasia, Splenomegaly, ... ORPHA:71493
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... OMIM:615849
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, Myofiber disarray, Increased variability in muscle fiber diameter, ... OMIM:604377
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Microcephaly OMIM:615440
Jacobsen Syndrome
Frontal bossing, Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Hypopla... ORPHA:2308
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis,... ORPHA:292
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Anorexia, Orchitis, Raynaud phenomenon, Weight loss, Cardio... ORPHA:48435
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Ataxia, Epistaxis, Abnormality of n... ORPHA:33226
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Microcephaly, Limb-girdle muscle weakness, Cardiomyopath... OMIM:615352
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro... OMIM:619313
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Gait ... ORPHA:157973
Noonan Syndrome 10
Relative macrocephaly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Increased... OMIM:616564
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Hyperhidrosis, Lethargy, Hypertrophic cardiomyopathy OMIM:614299
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Prom... ORPHA:556955
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Nonimmune hydrops fetalis, Ascites, Oligohydramnios OMIM:617667
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Positiv... ORPHA:29072
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicular hepatic steatosi... OMIM:124000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia ORPHA:277
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Ataxia, Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyopa... OMIM:618228
Congenital Myopathy 24
Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopath... OMIM:617336
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Calvarial hyp... OMIM:612714
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, ... ORPHA:3162
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Sialuria
Hepatomegaly, Frontal bossing, Splenomegaly, Macroglossia, Hypoplastic nipples, Attention deficit... OMIM:269921
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Abnormal heart ... ORPHA:77293
Nephronophthisis 16
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Polycystic kidne... OMIM:615382
Noonan Syndrome 7
Large for gestational age, Lentigo maligna melanoma, Dysphagia, Hyperhidrosis, Macrocephaly, Impa... OMIM:613706
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Lethargy OMIM:210200
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility, Situs inversus totalis OMIM:620197
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Facial hypotonia, Limb jo... ORPHA:404454
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Congestive he... OMIM:615895
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Dysphagia, Asymmetric septal hypertrophy, Dolichocepha... OMIM:252930
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Hydrops fetalis, Thyroid carcinoma, Lymphocytosis, Increased B cell cou... ORPHA:3261
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... OMIM:619510
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Enchondroma, Myositis, Diabetes mellitus, Multiple joint contractu... ORPHA:51
Sengers Syndrome
Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arteri... OMIM:212350
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, L... ORPHA:520
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:101800
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Microcephaly, Hydrops fetalis, Cardiomyopathy, Abnormality of the ... ORPHA:88618
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic... OMIM:600001
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance ORPHA:34587
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Ataxia, Microcephaly, Lethargy, Hypertrophic cardi... ORPHA:2609
East Syndrome
Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Increased circulating renin level, D... ORPHA:199343
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Brachycephaly, Atrial se... OMIM:265380
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Micro... OMIM:616801
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Microcephaly, Elevated circulating alanine aminotr... OMIM:618500
Fanconi Anemia, Complementation Group P
Pancytopenia, Microcephaly, Cryptorchidism, Squamous cell carcinoma, Anemia OMIM:613951
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Ataxia, ... ORPHA:636
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ventricular septal defect, Elevat... OMIM:619525
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Atax... ORPHA:50918
Leopard Syndrome 1
Bundle branch block, Scapular winging, Hypospadias, Delayed menarche, Cryptorchidism, Complete at... OMIM:151100
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy, Let... OMIM:616483
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Brachycephaly, Gait ataxia, Hepatomegaly, Elevated circulating asparta... OMIM:280000
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Neutrophilia, Leukocytosis, Hypoxemia, Leukopenia, Pleural empyema, Add... ORPHA:36238
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Mic... ORPHA:309854
Adrenoleukodystrophy
Primary adrenal insufficiency, Limb ataxia, Impotence, Hypogonadism, Attention deficit hyperactiv... OMIM:300100
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Failure to thrive, Microcephaly OMIM:618229
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Primary testicular failure, Atrial fib... OMIM:115250
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Stevens-Johnson Syndrome
Acute hepatic failure, Dyspareunia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, M... ORPHA:36426
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Raynaud phenomenon,... OMIM:615688
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Hyperhi... ORPHA:99868
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Episodic hype... ORPHA:276621
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Weight loss, Failure to thrive, Cachexia, Gait ataxia OMIM:612075
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Microcephaly, Basal cell carcinoma, Neoplasm, Hypogonadism, Squamous cell carcinoma of th... OMIM:610651
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... ORPHA:3260
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of... ORPHA:1329
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... ORPHA:31825
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Polydipsia... ORPHA:320
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Gait disturb... ORPHA:352540
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... OMIM:617237
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Spinocerebellar Ataxia 48
Ataxia, Cachexia, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... OMIM:603903
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Secondary microcephaly, Microcephaly OMIM:616672
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Secondary microcephaly, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Nelson Syndrome
Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort... ORPHA:199244
Spondyloepimetaphyseal Dysplasia, Krakow Type
Frontal bossing, Decreased serum insulin-like growth factor 1, Elbow contracture, Platybasia, Kne... OMIM:618162
Huntington Disease-Like 1
Restlessness, Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance ORPHA:157941
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Microcephal... ORPHA:2990
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomy... OMIM:619259
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Dehydration, Weight loss, Lethargy, Failure to t... OMIM:143880
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to ... ORPHA:91130
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy OMIM:616881
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Alg3-Cdg
Microcephaly, Abnormality of the endocrine system, Cardiomyopathy, Macroglossia, Decreased liver ... ORPHA:79321
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Multiple lipo... ORPHA:1349
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... OMIM:616276
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Microcephaly, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... OMIM:616198
Immunodeficiency 22
Pericarditis, Failure to thrive, Thrombocytopenia, Capillary leak, Decreased proportion of CD4-po... OMIM:615758
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... OMIM:115310
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration ORPHA:363549
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Brachycephaly,... ORPHA:349
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Osteomyelitis, Abnormal proportion of CD8-positive T cells, ... ORPHA:443811
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Frontal bossing, Splenomegaly, Cranial hyperostosis, Enlarged... OMIM:607014
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Giant Cell Arteritis
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Mediastinal lymphadenopathy, Vas... ORPHA:397
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria OMIM:252900
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... ORPHA:909
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
Penoscrotal Transposition
Abnormal external genitalia, Hypospadias, Penoscrotal transposition, Prominent occiput, Cardiomyo... ORPHA:2842
Familial Cold Urticaria
Polydipsia, Dehydration, Hyperhidrosis ORPHA:47045
Lesch-Nyhan Syndrome
Megaloblastic anemia, Choreoathetosis, Self-injurious behavior, Dysphagia, Testicular atrophy OMIM:300322
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Craniosynostosis, Microcephaly, Cryptorch... ORPHA:33364
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Corneal neovascularization, Squamous cell carcinoma OMIM:615225
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Multiple small medullary renal... OMIM:263200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... OMIM:248370
Progressive Non-Fluent Aphasia
Restlessness, Brain neoplasm ORPHA:100070
Alg1-Cdg
Cardiomyopathy, Decreased liver function, Progressive microcephaly, Abnormal heart morphology ORPHA:79327
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Cardiac arrest, Eosinophilia, Myocarditis, ... ORPHA:139402
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Nodular regenerative hyperplasia of liver, Raynau... ORPHA:247691
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Weight los... ORPHA:71273
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss, Hyperhidrosis ORPHA:84142
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Frontal bossing, Hyperactivity, Restlessness, Aggressive behavior, Splenomegaly, Ac... OMIM:252940
Noonan Syndrome
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonary valve morphology, Lymphedema, Cry... ORPHA:648
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... ORPHA:822
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopenia, ... OMIM:242900
Teratoma, Pineal
Abnormal abdomen morphology, Teratoma, Polydipsia OMIM:273120
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili... OMIM:267010
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Myocardial necrosis, Pancyto... OMIM:260400
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... OMIM:612954
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98863
Legionnaires Disease
Pericarditis, Ataxia, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lym... ORPHA:549
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Small scrotum, External genital hypoplasia, Cry... OMIM:614231
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Dehydration, Portal fibrosis, Hepatic... OMIM:619377
Zimmermann-Laband Syndrome 1
Hepatomegaly, Dolichocephaly, Splenomegaly, Long penis, Gingival fibromatosis, Cardiomyopathy, Ma... OMIM:135500
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Telangiectasia of the skin, Ataxia, Micro... ORPHA:910
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, B-cell lymphoma, Myocardial infarctio... ORPHA:91139
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Xerostomia, Hepat... ORPHA:227990
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Arthritis, Panniculi... OMIM:617591
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Cachexia, Microcephaly, Congenital diaphragma... ORPHA:3380
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Prominent occiput, H... OMIM:606056
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Situs inversus totalis OMIM:300991
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Weight loss, Palpitations, Goiter OMIM:188580
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hyperlipidemia, Rhabdomyolysis, Hepatic calcification, Cardiomyopathy, Myopathy, Po... ORPHA:157
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Corneal ... OMIM:617388
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Polyhydramnios, Cryptorchidism, Hyperhidrosis, Mitral val... OMIM:619745
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatic... OMIM:167800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,... OMIM:301066
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple... OMIM:257220
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B ly... ORPHA:508542
Arima Syndrome
Hepatomegaly, Ataxia, Hypertension, Renal corticomedullary cysts, Hepatic fibrosis, Polycystic ki... OMIM:243910
Alg9-Cdg
Hydrops fetalis, Brachycephaly, Right ventricular dilatation, Abnormal left ventricular outflow t... ORPHA:79328
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hepatic hemangioma, Dysphagia... ORPHA:73230
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Optic nerve compression, Le... ORPHA:96253
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Renal cyst, Mitral valve prolapse, Hypertension, Pitu... ORPHA:730
Huntington Disease-Like 2
Bradykinesia, Weight loss OMIM:606438
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Microcephaly, Flexion contracture, Telangiectasia, Squamous cell carci... OMIM:601675
Chops Syndrome
Ventricular septal defect, Microcephaly, Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmona... OMIM:616368
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Secondary microcephaly OMIM:618236
Juvenile Polyposis Syndrome
Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, Multiple lipomas, Hemangiobl... ORPHA:2929
Faundes-Banka Syndrome
Frontal bossing, Fetal ascites, Premature thelarche, Cryptorchidism, Dysphagia, Plagiocephaly, De... OMIM:619376
Pyomyositis
Myositis, Sudden cardiac death, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Cardiomyopathy, De... OMIM:618839
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Microcephaly ORPHA:1305
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Frontal bossing, Cachexia, Abnormal heart morphol... ORPHA:79076
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Anorexia, Weight loss, Cardiomyopathy, ... ORPHA:79430
Gm1-Gangliosidosis, Type I
Hepatomegaly, Frontal bossing, Abnormal heart valve morphology, Splenomegaly, Congestive heart fa... OMIM:230500
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Truncal ataxia, Orthostatic hypoten... OMIM:105210
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts, Midface retrusion, Polyhydramnios ORPHA:1190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Ataxia OMIM:618683
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Cockayne Syndrome
Skeletal muscle atrophy, Progressive gait ataxia, Congenital contracture, Hepatomegaly, Ataxia, C... ORPHA:191
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... ORPHA:449395
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... OMIM:614868
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... ORPHA:391487
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insu... ORPHA:2047
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Amyloidosis, Finnish Type
Abnormal abdomen morphology, Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Noonan Syndrome 1
Male infertility, Juvenile myelomonocytic leukemia, Atrial septal defect, Amegakaryocytic thrombo... OMIM:163950
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio... OMIM:230800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Situs inversus totalis OMIM:612444
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Acute Lung Injury
Shock, Acute pancreatitis, Edema, Diffuse alveolar hemorrhage, Hypoxemia, Addictive alcohol use ORPHA:178320
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Niemann-Pick Disease, Type C2
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Polyhydramnios, Splenomegaly, Jaundi... OMIM:607625
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmu... OMIM:620167
Noonan Syndrome 11
Atrial septal defect, Relative macrocephaly, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Polyhydramnios,... ORPHA:800
Campomelia, Cumming Type
Polycystic liver disease, Lymphedema, Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma... OMIM:312870
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... OMIM:619752
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Pmm2-Cdg
Multiple joint contractures, Lymphedema, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Frontal bossing, Hip contracture, Cachexia, Microcephaly, Elbow flexion contracture, Knee flexion... ORPHA:371364
Joubert Syndrome 32
Frontal bossing, Ataxia, Large for gestational age, Macrocephaly, Hypertrophic cardiomyopathy OMIM:617757
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Polyhydramnios ORPHA:1203
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased... ORPHA:398063
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Diabetes insipidu... ORPHA:900
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturban... ORPHA:96
Vici Syndrome
Atrial septal defect, Lymphopenia, Failure to thrive, Microcephaly, Congestive heart failure, Dil... OMIM:242840
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Ataxia, Splenomegaly, Hypohidrosis, Hypogonadism, Arthrogryposis multiplex congenit... ORPHA:163746
Choreoacanthocytosis
Peroneal muscle atrophy, Compulsive behaviors, Loss of ambulation, Muscle fiber atrophy, Hepatome... ORPHA:2388
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Frontal bossing, Congestive heart failure, Irregular menstruation, Uterine leiomyoma, Macrocephal... OMIM:616482
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Prune1-Related Neurological Syndrome
Plagiocephaly, Inability to walk, Hypertrophic cardiomyopathy, Microcephaly ORPHA:544469
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Edema, Weight loss ORPHA:33577
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Senior-Loken Syndrome 4
Polydipsia, Anemia OMIM:606996
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Pleu... OMIM:249100
Haddad Syndrome
Small for gestational age, Polyhydramnios, Neuroblastoma, Failure to thrive, Ganglioneuroma, Olig... ORPHA:99803
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Skeletal muscle atroph... OMIM:615512
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Epistaxis, Lymphoma, Neuroblast... OMIM:601399
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... ORPHA:2686
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Rhabdomyolysis, Ventricular tachycardia, Increased c... OMIM:263800
Lymphoid Interstitial Pneumonia
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Weight loss, Hypoxemia, Pulmonary ... ORPHA:79128
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hepatom... ORPHA:797
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Anorexia, Nephrogenic diabetes insipidus, Hypovolemia,... ORPHA:223
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Chorioretinal coloboma ORPHA:1116
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Friedreich Ataxia
Hand muscle atrophy, Diabetes mellitus, Inability to walk, Dysmetria, Gait ataxia, Limb ataxia, C... ORPHA:95
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Cryptorchidis... OMIM:620025
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Inclusion body fibromatosis, Mitral regurgitation, Camptodactyly, Restrictiv... ORPHA:88630
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... OMIM:229600
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... ORPHA:67
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenome... OMIM:181000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Broad-based gait, Scapular winging, Ataxia, Centrally nucleated skeletal... OMIM:607459
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L... OMIM:127550
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
22Q11.2 Deletion Syndrome
Polyhydramnios, Hypoplasia of the thymus, Abnormality of the uterus, Atrial septal defect, Hypoth... ORPHA:567
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Ataxia, Cachexia, Microcephaly, Inability to walk, Upper-limb joint cont... ORPHA:300605
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, Brachycephaly, Hypoplastic nipples, Microcephaly OMIM:156610
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... OMIM:253220
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... OMIM:605814
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Ataxia, Inability to walk, Knee flexion contracture, Gait imbalance, Primary mic... ORPHA:488642
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Microcephaly, As... OMIM:164280
Refsum Disease
Skeletal muscle atrophy, Ataxia, Heart block, Splenomegaly, Cardiomyopathy ORPHA:773
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Polyhydramnios, Cachexia, Microcephaly, Flexion contracture, Facial diple... OMIM:618186
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... OMIM:266200
Cystic Fibrosis
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Dehydration, Hepatosplenomegaly... OMIM:219700
Hurler Syndrome
Hepatomegaly, Frontal bossing, Abnormal heart valve morphology, Angina pectoris, Abnormality of t... ORPHA:93473
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia... ORPHA:2306
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Renal cell carcinoma, Uterine leiomyoma,... OMIM:150800
Cardiofaciocutaneous Syndrome 1
Relative macrocephaly, Polyhydramnios, Splenomegaly, Tongue thrusting, Cavernous hemangioma, Hype... OMIM:115150
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Anhidrosis, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myopathy, Neoplasm, Th... ORPHA:169090
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Renal cyst, Bile duct ... OMIM:208500
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Microcephaly, Secundum atrial septal defect, Aggressive behavior, Scissor gait, Dysmetria, Facial... OMIM:619121
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema, Acroc... ORPHA:3165
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... OMIM:310200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing impairment, Abnor... ORPHA:760
Rothmund-Thomson Syndrome Type 2
Calcinosis, Aplastic anemia, Small for gestational age, Myelodysplasia, Facial edema, Cryptorchid... ORPHA:221016
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Sensorineural hearing impairment, Neu... OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Elevated circulating thyroid-stimulatin... OMIM:256040
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Decreased liver fu... OMIM:618835
Icf Syndrome
Abnormality of neutrophils, Low-set ears, Umbilical hernia, Lymphopenia, Anemia ORPHA:2268
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypertriglyceridemia, F... ORPHA:247598
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Schwannoma, Jaw claudication, Weight loss, Neoplasm, Syncope, Bradycardia ORPHA:221098
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, Decreased ... ORPHA:169160
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... ORPHA:216866
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Female hypogonadism, Abnormal spermatogenesis, T lymphocyto... OMIM:208900
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... ORPHA:580
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... ORPHA:679
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Scorpion Envenomation
Bundle branch block, Edema, Hyperhidrosis, Prominent U wave, Hyperglycemia, Priapism, Ataxia, Ele... ORPHA:466677
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Trisomy 10P
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Secondary microcephaly, Tr... OMIM:312750
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Yunis-Varon Syndrome
Polyhydramnios, Cardiomegaly, Abnormal occipital bone morphology, Hydrops fetalis, Atrial septal ... ORPHA:3472
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Adrenal ... OMIM:249000
Cranioectodermal Dysplasia 2
Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, Atrial septal defect, Patent foramen ov... OMIM:613610
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Microcephaly, Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies OMIM:616549
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Cartilage-Hair Hypoplasia
Joint laxity, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Agan... OMIM:250250
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Diabetes insipidus, Hypertonic dehydration OMIM:304800
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Hypospadias, External genital hypoplasia, P... ORPHA:2588
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Anorexia, Follicular hyperplasia, Splenom... OMIM:619381
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Polydipsia, Failure to thrive, Hypertonic dehydration OMIM:125800
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Flexion contracture, Cachexia, Weight loss ORPHA:1979
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Frontal bossing, Ataxia, Cholangitis, Edema, Microcephaly, Pancreatic cysts, Congen... OMIM:266920
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal cardiac septum morphology, Cac... ORPHA:93941
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Dehydr... ORPHA:230
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Orchitis, Splenomegaly, Peritonitis, Vasculitis, Leukocytosis, Periorbita... ORPHA:32960
Norrie Disease
Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Self-injurious behavior, Erectile dysf... ORPHA:649
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Craniosynostosis, Cardiomeg... OMIM:252500
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Degcags Syndrome
Polyhydramnios, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Atrial septal defe... OMIM:619488
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Tricuspid regurgitation, Hypospadias, Congenital di... ORPHA:2556
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Cavernous hemangio... OMIM:616028
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Joint stiffness, Leukopenia, Thrombocytosis, Lymphopenia, Anemia OMIM:615934
Bardet-Biedl Syndrome 12
Abdominal mass, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia OMIM:615989
Nephronophthisis 11
Polydipsia, Renal corticomedullary cysts, Hepatic fibrosis, Anemia OMIM:613550
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hyperlipidemia,... OMIM:232200
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction ORPHA:206448
Congenital Central Hypoventilation Syndrome
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma ORPHA:661
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, C... ORPHA:90033
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypercholes... ORPHA:470
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Weight loss, Lethargy, Thrombocytopenia ORPHA:79242
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, General... ORPHA:572798
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Perry Syndrome
Akinesia, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition, Short stepped shuffli... OMIM:168605
Cryptogenic Organizing Pneumonia
Neutrophilia, Cyanosis, Anorexia, Leukocytosis, Weight loss, Hypoxemia ORPHA:1302
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis OMIM:619607
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... ORPHA:276
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Toriello-Carey Syndrome
Microcephaly, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenos... ORPHA:3338
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotes... OMIM:309801
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Hypertension, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating... OMIM:612780
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Ganglioneuroblastoma, Hyperhidrosis, Neoplasm of the nervous system, Arrhy... ORPHA:2151
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc... ORPHA:221
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Dolichocephaly, Splenomegaly, Flexion contracture, Cardiom... OMIM:253200
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension ORPHA:767
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Ataxia, ... ORPHA:77261
Fusariosis
Brain abscess, Fasciitis, Osteomyelitis, Lung abscess, Abnormal retinal morphology, Abnormality o... ORPHA:228119
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Frontal bossing, Macrocephaly OMIM:600721
Pneumocystosis
Abnormal neutrophil count, Weight loss, Hypoxemia, Neoplasm, Pleural effusion ORPHA:723
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in... ORPHA:37042
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... OMIM:619051
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... OMIM:301078
Intellectual Developmental Disorder, Autosomal Dominant 68
Frontal bossing, Microcephaly, Joint contracture of the 5th finger, Attention deficit hyperactivi... OMIM:619934
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Myocarditis, Lymphadenitis, Endocarditis, Weight loss, A... ORPHA:31205
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
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy, Calf muscle hypertrophy ORPHA:98896
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Marchiafava-Bignami Disease
Ataxia, Facial palsy, Aggressive behavior, Gait ataxia, Addictive alcohol use, Gait disturbance, ... ORPHA:221074
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Arthritis, Lymphopenia OMIM:616100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Naxos Disease
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... ORPHA:34217
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cyanosis, Cardiomegaly, Pericar... ORPHA:555874
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Frontal bossing, Ventricular septal defect, External genital ... ORPHA:96334
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Khan-Khan-Katsanis Syndrome
Lymphopenia, Sensorineural hearing impairment, Corneal scarring, Pigmentary retinopathy, Neutrope... OMIM:618460
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Elevated circulating alanine aminotransferase conce... ORPHA:308552
Congenital Tufting Enteropathy
Dehydration, Weight loss, Cholestatic liver disease, Steatorrhea, Failure to thrive ORPHA:92050
Secondary Non-Traumatic Avascular Necrosis
Neoplasm, Addictive alcohol use, Difficulty walking, Hematological neoplasm ORPHA:399180
Leigh Syndrome
Skeletal muscle atrophy, Failure to thrive, Multiple joint contractures, Hypoglycemia, Ventricula... ORPHA:506
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Multiple renal cysts,... OMIM:613095
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Por... ORPHA:3202
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:605479
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss, Lymphadenopathy ORPHA:411703
Nephronophthisis 3
Polydipsia, Renal corticomedullary cysts, Hepatic fibrosis OMIM:604387
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy, Oligohydramnios OMIM:619053
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Refsum Disease, Classic
Ataxia, Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Bent Bone Dysplasia Syndrome 2
Relative macrocephaly, Hepatomegaly, Decreased calvarial ossification, Shawl scrotum, Atrial sept... OMIM:620076
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Autophagic vacuoles, Hypercapnia, Facial palsy, Dilated c... OMIM:164310
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Cryptorchidism, Thrombocytopenia, A... OMIM:620005
Ciliary Dyskinesia, Primary, 1
Asplenia, Absent outer dynein arms, Male infertility, Situs inversus totalis OMIM:244400
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Agel Amyloidosis
Ataxia, Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Abnormal spleen morpho... ORPHA:85448
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Shoulder muscle hypoplasia,... OMIM:274000
Alternating Hemiplegia Of Childhood
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Ag... ORPHA:2131
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal... ORPHA:79102
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Craniosynostosis, Precocious puberty, Obesity, Renal cy... ORPHA:369837
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Weight loss, Paraganglioma, Dysphagia ORPHA:97286
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect, Congenital neuroblastoma OMIM:147800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Xerostomia, Hamartomatous polyposis, Hematochezia, Anemia OMIM:175500
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Atelis Syndrome 2
Frontal bossing, Microcephaly, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone... OMIM:620185
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip... OMIM:232240
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Frontal bossing, Congenital muscular torticollis, Abn... ORPHA:2538
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms, Situs inversus totalis OMIM:614935
Rothmund-Thomson Syndrome
Calcinosis, Telangiectasia of the skin, Aplastic anemia, Myelodysplasia, Small for gestational ag... ORPHA:2909
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Cachexia, Microcephaly ORPHA:1933
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Abnormal heart morphology, Low-set ears, Aor... ORPHA:401973
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Short Syndrome
Insulin resistance, Diabetes mellitus, Midface retrusion, Weight loss ORPHA:3163
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Glucose intolerance, Cirrhosis, Glycosuria, Hypertrophic cardiomyopathy,... OMIM:616539
Gm1 Gangliosidosis Type 1
Frontal bossing, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Thickened cal... ORPHA:79255
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Hyperhidrosis, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... OMIM:615279
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Platelet Disorder, Undefined
Neuroblastoma, Thrombocytopenia, Hematological neoplasm OMIM:173420
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoid arthritis, Ne... OMIM:607944
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Polyhydramnios, Hypercapnia, Hypoplasia of the mu... ORPHA:2020
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Frontal bossing, Abnormal erythrocyte morphology, Splenomegaly... ORPHA:288
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Gait ataxia, Cardiomyopathy, Loss of ambul... OMIM:620089
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrometrocolpos, Atrioventricular canal defect, Hama... OMIM:617088
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Cardiomyopathy, Myopathy, Calf muscle hypertrophy, Difficulty wa... ORPHA:119
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, ... ORPHA:255210
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Patent foramen ovale, Self-mutilation... OMIM:607872
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... OMIM:612098
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Large for gestational age, Brachycephaly, Renal cyst, Lambdoidal craniosynostosis, Macroc... OMIM:615398
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Nocardiosis
Pericarditis, Liver abscess, Abnormal heart valve morphology, Anorexia, Lymphadenitis, Peritoniti... ORPHA:31204
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Microcephaly, Athetosis, Self-mutilation ORPHA:52503
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Ascites, Chylous
Chylous ascites OMIM:208300
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Fetal ascites OMIM:215045
Ménétrier Disease
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Weight loss, Peripheral edema ORPHA:2494
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... OMIM:615418
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Dysp... ORPHA:258
Bartter Syndrome, Type 2, Antenatal
Frontal bossing, Small for gestational age, Polyhydramnios, Low-to-normal blood pressure, Dehydra... OMIM:241200
Cartilage-Hair Hypoplasia
Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:175
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Abnormality of the tonsils, Dolichocephaly, Splenomegaly, Conges... ORPHA:579
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Weight loss, Hypoxemia, Pleural effusion ORPHA:2902
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Polydipsia OMIM:617671
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Lymphedema, Atrioventricular block, D... ORPHA:324
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Ataxia, Cardiomyopathy ORPHA:3222
Ring Chromosome 7 Syndrome
Hypospadias, Microcephaly, Situs inversus totalis, Brachycephaly, Heart murmur, Hydrocele testis,... ORPHA:1449
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Glioma, B-cell lymphoma, ... ORPHA:647
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Microcephaly, Choreoathetosis, Gait disturbance ORPHA:702
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Weight loss, Bradykinesia, Agitation, Shuffling gait, Dysphagia, Orthostat... ORPHA:411602
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Isolated Osteopoikilosis
Abnormality of the endocrine system, Addictive alcohol use, Abnormal heart morphology ORPHA:166119
Oculoectodermal Syndrome
Hyperactivity, Transient ischemic attack, Supernumerary nipple, Lymphedema, Pineal cyst, Macrocep... OMIM:600268
Gerstmann-Straussler Disease
Aggressive behavior, Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Truncal ataxia, Lower l... OMIM:137440
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Xerostomia, Weight loss OMIM:617321
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Right bundle branch ... OMIM:617403
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehydr... ORPHA:2260
Tetrasomy 12P
Frontal bossing, Cachexia, Hypohidrosis ORPHA:884
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Hypoxemia, Pulmonary venous hypertension, Thrombocytopenia ORPHA:90060
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Gait disturbance, Camptodactyly of finger, Cachexia ORPHA:2774
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple... ORPHA:90041
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Enlarged lacrimal glands, Xero... ORPHA:79078
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Fatal Familial Insomnia
Weight loss, Ataxia, Dysphagia, Hyperhidrosis OMIM:600072
Renal Hypoplasia
Hypertension, Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Flexion contracture, Plagiocephaly, Myopathy, Gait dis... ORPHA:3042
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardio... OMIM:616084
Central Hypoventilation Syndrome, Congenital, 1
Decreased heart rate variability, Ganglioneuroblastoma, Hypercapnia, Hyperhidrosis, Hypoxemia, Ne... OMIM:209880
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Inability to wa... ORPHA:505248
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Unsteady gait... ORPHA:90324
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Dehydration, Edema, Weight loss ORPHA:103910
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Hyperlipidemia, Gluco... OMIM:608612
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Dehydration, Glycosuria, Polydipsia, Failure to thrive ORPHA:411629
Oromandibular Dystonia
Torticollis, Bruxism, Dysphagia, Weight loss ORPHA:93958
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
Juvenile Nephropathic Cystinosis
Hypovolemia, Dehydration, Glycosuria, Polydipsia, Failure to thrive, Hypothyroidism ORPHA:411634
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Microcephaly, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:220295
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hype... OMIM:229300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... OMIM:619705
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Atrial septal defect, Lower limb dysmetria, Ventricular septal defect, Schwannoma, Ossifying fibr... ORPHA:363700
Retinoblastoma
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... ORPHA:790
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Hypertrophic cardiomyopathy, Failure to thrive, Mitochon... OMIM:618250
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy, Failure to thrive ORPHA:324525
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Ring Chromosome 10 Syndrome
Frontal bossing, Cachexia ORPHA:1438
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Usher Syndrome
Ataxia, Abnormal cardiovascular system physiology, Decreased fertility, Myopathy, Hypertrophic ca... ORPHA:886
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Frontal bossing, Multicystic kidney dysplasia, Ataxia, Hamartoma o... ORPHA:2750
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Focal Myositis
Myositis, Weight loss ORPHA:48918
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Edema, Vasculitis, Anemia, Weight loss ORPHA:324964
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Ataxia OMIM:614879
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis OMIM:610773
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Edema, Hydrops fetalis, Hyperaldosteronism, Polydipsia, Failure to thrive OMIM:602522
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction ORPHA:60033
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Hepatomegaly, Frontal bossing, Splenomegaly, Hypohidrosis, Aplasia of the sweat gland... OMIM:612132
Hypomagnesemia 3, Renal
Failure to thrive, Elevated circulating parathyroid hormone level, Polydipsia OMIM:248250
Rheumatoid Arthritis
Joint swelling, Digital flexor tenosynovitis, Vasculitis, Weight loss OMIM:180300
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Costello Syndrome
Hypoglycemia, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contra... OMIM:218040
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Weight loss ORPHA:79127
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Cyanosis, Facial palsy, C... ORPHA:31826
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Steppage gait, Lower limb muscl... ORPHA:521411
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Panc... OMIM:615947
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Thrombocytosis, Impaired neutrophil chemotaxis, Microcephaly, Peritonitis... ORPHA:2968
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Nephronophthisis 1
Hypertension, Polydipsia, Renal corticomedullary cysts, Anemia OMIM:256100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Small scrotum, Hypospadias, Microcephaly, Dolichocephaly, Cryptorchidism, Paroxysm... OMIM:309580
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Weight loss, Lymphadenopathy, Joint swelling, Hepatosplenomegaly, Anemia ORPHA:85408
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture, Cerebral edema, Microcephaly OMIM:614462
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Weakness of facial musculature, Flexion contracture, Cardiomyopathy, Myopathy, Lethargy, ... OMIM:201470
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledochus, Brachycephaly... ORPHA:480880
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Microcephaly, Intraventricular ... ORPHA:420741
Yunis-Varon Syndrome
Flat occiput, Polyhydramnios, Hydrops fetalis, Abnormal calvaria morphology, Micropenis, Parietal... OMIM:216340
Malt Lymphoma
B-cell lymphoma, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Hyperhidrosis, Ly... ORPHA:52417
Distal Renal Tubular Acidosis
Hemolytic anemia, Renal cyst, Dehydration, Polydipsia, Failure to thrive ORPHA:18
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Retinoblastoma
Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Whim Syndrome
Neutropenia, Tetralogy of Fallot, Abnormal neutrophil morphology, Cellulitis, Lymphopenia ORPHA:51636
Atresia Of Urethra
Pulmonary insufficiency, Ascites, Oligohydramnios ORPHA:105
Multiple Myeloma
Splenomegaly, Weight loss, Lymphadenopathy, Pleural effusion, Anemia ORPHA:29073
Pancreatic Triacylglycerol Lipase Deficiency
Edema, Weight loss, Iron deficiency anemia, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Kindler Epidermolysis Bullosa
Turricephaly, Camptodactyly of finger, Phimosis, Flexion contracture, Neoplasm of the urethra, Sq... ORPHA:2908
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Nephronophthisis 4
Polydipsia, Renal corticomedullary cysts, Anemia OMIM:606966
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... ORPHA:69085
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Dysphagia, Slender build OMIM:603041
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Addictive alcohol use, Cerebral edema ORPHA:1930
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Craniosynostosis, Congestive h... ORPHA:3342
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension, Renal corticomedullary cysts, Chronic pancreatitis OMIM:613159
Primary Hyperoxaluria
Elevated hepatic transaminase, Raynaud phenomenon, Heart block, Arterial occlusion, Acrocyanosis,... ORPHA:416
Proximal Renal Tubular Acidosis
Hypovolemia, Dehydration, Glycosuria, Subvalvular aortic stenosis, Polydipsia, Failure to thrive ORPHA:47159
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... OMIM:600376
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
Cantú Syndrome
Macrocephaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Vici Syndrome
Cardiomyopathy ORPHA:1493
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... OMIM:187300
Senior-Loken Syndrome 3
Polydipsia, Renal corticomedullary cysts OMIM:606995
Acrodermatitis Enteropathica
Failure to thrive, Anorexia, Weight loss ORPHA:37
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Hyperlipidemi... ORPHA:391665
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy, Microcephaly, Small for gestational age, Primary microcephaly OMIM:616051
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Pineoblastoma
Retinoblastoma, Lethargy, Pinealoma ORPHA:251909
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Anorexia, Abnormality of the thyroid gland, Abnormal mitral va... ORPHA:1969
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Mitral v... OMIM:175050
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Pallister-Killian Syndrome
Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flex... OMIM:601803
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Microcephaly, Dilatation of the ventricular cavity, Card... ORPHA:363623
Fryns-Smeets-Thiry Syndrome
Cachexia, Microcephaly ORPHA:2058
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Reduced ... OMIM:301074
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Charge Syndrome
Secundum atrial septal defect, Atrial septal defect, Overriding aorta, Hypogonadotropic hypogonad... OMIM:214800
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Weight loss ORPHA:747
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... OMIM:608710
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Pemphigus Vulgaris
Weight loss ORPHA:704
Senior-Loken Syndrome 1
Polydipsia, Anemia OMIM:266900
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Cachexia, Congestive heart failure, Mitral v... ORPHA:558
Seckel Syndrome
Craniosynostosis, Cachexia, Microcephaly ORPHA:808
Reactive Arthritis
Aortic regurgitation, Joint swelling, Pericarditis, Weight loss ORPHA:29207
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Primary Fanconi Renotubular Syndrome
Weight loss, Hypoglycemia, Dehydration, Glycosuria ORPHA:3337
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Weight loss, Macular edema, Vitreous hemorrhage, Normochromic anemia... ORPHA:91500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Polyhydramnios, Fetal ascites, Hypoplastic left heart, Oligo... ORPHA:141127
Stickler Syndrome
Skeletal muscle atrophy, Cachexia, Mitral valve prolapse, Macroglossia, Arrhythmia, Slender build... ORPHA:828
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... OMIM:234700
Goodpasture Syndrome
Cyanosis, Weight loss, Anemia, Pulmonary hemorrhage OMIM:233450
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100

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 Trim37

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 Trim37.

No publications found that use IMPC mice or data for Trim37.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Trim37em1(IMPC)Marc Deletion Mice
Trim37tm55(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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