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Gene: Cdkn2c MGI:105388

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cyclin dependent kinase inhibitor 2C
Synonyms:
p18INK4c,  INK4c,  p18

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Cdkn2c 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 Cdkn2c by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652

The table below shows human diseases predicted to be associated to Cdkn2c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Pituitary Carcinoma
Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho... ORPHA:300385
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Tall stature, Increased bo... ORPHA:300373
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Weight loss, Neoplasm of the lung, ... ORPHA:1332
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Weight loss, Decreased circulating antibody level, Leuko... ORPHA:33355
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ol... ORPHA:91351
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 24
Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased... OMIM:615897
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Genital edema, Absent peripheral lymph nodes in presence of infe... ORPHA:98813
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly ORPHA:2274
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... ORPHA:251623
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... ORPHA:91347
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Renal tubu... ORPHA:562
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
Mantle Cell Lymphoma
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Precocious puberty, Cryptorchidism, Renal transitional cell carci... ORPHA:2874
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydration, Increased circula... ORPHA:90791
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elev... ORPHA:653
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... OMIM:300400
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Adrenocorticotropic hormone excess... ORPHA:100083
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Sec... ORPHA:91350
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Carney Triad
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Adrenal overactivity, Leiomyosarcoma,... ORPHA:139411
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... ORPHA:276621
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Lymphadenopathy, Increased proportion of memory T cells, Hepatos... OMIM:618982
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ... ORPHA:180229
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein... ORPHA:29072
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Dehydration, Anemia, Choreoathetosis, Neutropenia, Failure to thrive,... ORPHA:79312
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Increase... ORPHA:168563
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Op... OMIM:162200
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... ORPHA:2969
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration OMIM:601410
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss ORPHA:2023
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Pachygyria, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidis... OMIM:614866
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated urinary catecholamine lev... OMIM:115310
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo... OMIM:615982
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Obesity, Renal cyst, Stage 5 ch... OMIM:615993
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noni... ORPHA:97289
Caspase 8 Deficiency
Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:607271
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Milroy Disease
Hydrocele testis, Neoplasm of the skin, Angiosarcoma ORPHA:79452
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Abnormal... ORPHA:636
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... OMIM:130650
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Cutaneous angiolipomas, Retroperitoneal chemodectomas, Chemodectoma OMIM:118350
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Anemia, Dehydration ORPHA:28
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... OMIM:202110
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Elevated urinary epinephrine level, Disproportionate tall stature, ... OMIM:162300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... ORPHA:90790
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Paraparesis, Dehydration, Anemia, Leukopenia, Choreoathe... ORPHA:27
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary gland, Delayed pube... OMIM:612079
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Premature ovarian... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Failure to thrive, Dehydration, Hepatomegaly OMIM:618958
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Chylothorax, Polyhydramnios OMIM:619036
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Clitoral ... ORPHA:398079
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Supernum... ORPHA:397715
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Central Precocious Puberty In Male
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Hydroceph... ORPHA:649929
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Holoprosencephaly OMIM:300706
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... ORPHA:86893
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Vipoma
Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the l... ORPHA:97282
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Precocious puberty, Pachygyria, Optic disc coloboma, ... OMIM:304050
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, ... ORPHA:545
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp... ORPHA:96181
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity, Lymphadenopathy ORPHA:99976
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytos... ORPHA:66661
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Optic atrophy, Decreased response to growth hormone... ORPHA:79323
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
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
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Truncal obesity, Sparse hair, Macroorchidism, High anterior hairline ORPHA:284180
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
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
C Syndrome
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Renal cortical cysts, Failure to thrive, ... OMIM:211750
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Cerebral palsy, Spastic paraplegia, Abnormal circulating renin, Athetosis, H... ORPHA:369929
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Alopecia of scalp, Hypogonadism, Decreased serum testosterone concent... OMIM:201100
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... ORPHA:314478
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Hypospadias, Adrenal hypoplasia... OMIM:214100
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor... ORPHA:97290
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Hydrops fetalis, Increased circulating IgG level, Thyroid carcinoma, Ly... ORPHA:3261
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Spastic tetrapa... OMIM:300148
Ane Syndrome
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... OMIM:269840
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decr... OMIM:619824
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, G... OMIM:604317
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Dehydration, Weight loss ORPHA:178029
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Pheochromocytoma
Proteinuria, Elevated urinary norepinephrine level, Neoplasm, Pheochromocytoma, Renal artery sten... OMIM:171300
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Elevated urinary catecholamine level, Pancreatic islet cel... ORPHA:892
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach... OMIM:607432
Wolcott-Rallison Syndrome
Hepatomegaly, Decreased body weight, Neonatal insulin-dependent diabetes mellitus, Jaundice, Dehy... ORPHA:1667
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Autosomal Recessive Spastic Paraplegia Type 26
Abnormality of the urinary system, Abnormal cerebellum morphology, Decreased serum testosterone c... ORPHA:101006
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Weight loss, Neoplasm of the central nervous system, Lymphadeno... ORPHA:69077
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Ataxia-Telangiectasia
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l... OMIM:208900
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss, Hepatomegaly ORPHA:79238
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Adr... OMIM:609981
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, L... ORPHA:296
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Neoplasm of head and neck, Chronic noninfectious lymphadenopathy, A... ORPHA:319487
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma OMIM:606864
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Partington Syndrome
Macroorchidism ORPHA:94083
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... ORPHA:3044
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Ataxia, Ce... OMIM:616113
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... ORPHA:293978
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
17Q11.2 Microduplication Syndrome
Macroorchidism, Sparse eyelashes, Sparse eyebrow ORPHA:139474
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Decreased ... OMIM:619313
Sandhoff Disease
Splenomegaly, Failure to thrive, Ataxia, Hepatomegaly ORPHA:796
Cog2-Cdg
Spastic tetraplegia, Small pituitary gland ORPHA:435934
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Dehydration, Myoclonus, Type I diabetes mellitus, Failure to thrive OMIM:560000
Congenital Disorder Of Glycosylation, Type Iiq
Spastic tetraplegia, Small pituitary gland OMIM:617395
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... ORPHA:171876
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Lujan-Fryns Syndrome
Macroorchidism, Disproportionate tall stature ORPHA:776
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Pheochromocytoma/Paraganglioma Syndrome 5
Paraganglioma OMIM:614165
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity ORPHA:3055
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... ORPHA:277
Mosaic Trisomy 1
Hepatic agenesis, Cerebellar vermis hypoplasia, Renal cyst, Renal cortical cysts, Cerebellar hypo... ORPHA:1692
Isovaleric Acidemia
Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Increased... ORPHA:398069
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insu... ORPHA:75233
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... ORPHA:97685
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Precocious puberty, Absence of renal cor... OMIM:613254
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... ORPHA:99429
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Agyria OMIM:300067
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Abnormal pons morphology, Elevated ... ORPHA:85327
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow... ORPHA:391
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Synophrys OMIM:300143
Hypercalcemia, Infantile, 1
Dehydration, Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Trichohepatoenteric Syndrome 1
Curly hair, Hepatomegaly, Brittle hair, Hypospadias, Small for gestational age, Increased mean pl... OMIM:222470
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... OMIM:191100
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormality of the kidne... ORPHA:2591
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, F... OMIM:264350
Autosomal Agammaglobulinemia
Hepatitis, Dehydration, Agammaglobulinemia, Neutropenia, Failure to thrive, Verrucae ORPHA:33110
Poems Syndrome
Edema, Hypothyroidism, Polycythemia, Abnormality of the endocrine system, Pericardial effusion, L... ORPHA:2905
Propionic Acidemia
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Th... OMIM:606054
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sen... OMIM:616719
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Proteus Syndrome
Lymphedema, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Capillary h... ORPHA:744
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Hepatitis, Increased bo... ORPHA:905
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Abnormality of the kidney, Spina bifida, Cryptorc... ORPHA:261318
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... OMIM:610600
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Candidiasis, Familial, 1
Abnormality of the endocrine system, Cutaneous anergy OMIM:114580
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Gonadoblastoma
Hirsutism, Gonadal calcification, Dysgerminoma, Increased serum testosterone level, Gonadal dysge... ORPHA:206484
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Abnormal pyramidal sign, Dehydration, Gait d... ORPHA:213
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Central hypo... ORPHA:514
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden... OMIM:240500
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congen... OMIM:614450
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Nephrogenic diabetes insipidus, Hepatic melanin-... OMIM:208085
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Hypospadias, Sparse eyelashes, Sparse eyebrow, Macroorchidism, Alopecia of sca... OMIM:618874
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... ORPHA:91
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Fibroma, Hypothyroidism, Hypertrichosis OMIM:619750
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:143
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paraly... ORPHA:99868
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... OMIM:619902
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Optic atrophy, Renal cortical cysts OMIM:609180
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I... OMIM:177735
Acquired Ichthyosis
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma ORPHA:454
Fragile X Syndrome
Macroorchidism ORPHA:908
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma OMIM:619101
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Cryptorchidis... OMIM:300957
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ectopic kidney, Cryptorchidism, Cerebellar hypoplasia, Cystic re... OMIM:613730
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Failure to thrive, Small for gestational age, Dehydration OMIM:214150
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Edema, Leukocytosis, Dehydration, Weight loss, Extrapyramidal dyskinesia, T... ORPHA:134
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Edema, Disseminated cutaneous warts, Perica... ORPHA:90362
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Abnormal circulating corticosterone level, Dehydration, Elevated ser... ORPHA:556030
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Rhyns Syndrome
Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, De... OMIM:203400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Dehydration, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytop... OMIM:251000
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Failure to thrive, Periventricular heterotopia OMIM:608097
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance ORPHA:98934
Enteric Anendocrinosis
Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension, Dehydration ORPHA:83620
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... OMIM:301082
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Impaired T cell function, Pure red cell a... OMIM:613179
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:99880
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia OMIM:604213
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Ataxia, Splenomegaly, Abnormal pyramidal sign, Hydrop... ORPHA:834
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Gray matter heterotopi... OMIM:611603
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptake, Decreased circula... ORPHA:90674
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis OMIM:619462
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Myoclonus, Hepatomegaly ORPHA:139406
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ... ORPHA:2221
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating... ORPHA:417
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... ORPHA:699
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Hypoinsulinemia OMIM:240900
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... ORPHA:400
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
Macrocephaly/Autism Syndrome
Speech apraxia, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity,... OMIM:605309
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Polyhydramnios, Tremor, Dehydration, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkine... OMIM:616271
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, Decreased circulati... ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration OMIM:609195
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ataxia, Edema, Spastic hemiparesis, Leukocytosis, Jaundice, Lip... ORPHA:20
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Cerebellar vermis hypoplasia, Hypospadias, Optic nerve hypoplasia, Sparse eyebrow,... ORPHA:495875
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Weight loss, Increased circulating antibody level, Hyperinsu... ORPHA:411593
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Hemiplegia... ORPHA:3157
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Diencephalic Syndrome
Cachexia, Long penis, Neoplasm of the nervous system, Decreased body weight, Abnormality of the h... ORPHA:1672
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Pachygyria, Renal cyst OMIM:614870
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Vocal cord paralysis, Lymphadenopathy, Neoplasm of the lung, Mal... ORPHA:142
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
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... ORPHA:98850
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased body weight, Spastic parap... OMIM:231000
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive c... ORPHA:248111
Granulomatous Slack Skin
Lymphoma, Hodgkin lymphoma, Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Lysosomal Acid Lipase Deficiency
Failure to thrive, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microv... ORPHA:275761
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Microsporidiosis
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid g... ORPHA:2552
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hypogonadism, Nonimmune hydrops fetalis, Hepatomegaly OMIM:608540
Giant Axonal Neuropathy
Babinski sign, Unsteady gait, Abnormal pituitary gland morphology, Distal sensory impairment, Fal... ORPHA:643
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Dehydration, Failure to thrive, Dec... OMIM:212140
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... ORPHA:97279
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Hyp... ORPHA:85282
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr... OMIM:618495
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Maternal Hyperthermia-Induced Birth Defects
Hypoplasia of penis, Abnormality of neuronal migration ORPHA:2216
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... OMIM:275000
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Metrorrhagia, Pelvic mass, Somatic sensory... ORPHA:370348
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphoproliferative disorder, Lymphedema, Abnormality of the spleen,... ORPHA:33276
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly OMIM:607685
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... ORPHA:552
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros... OMIM:263200
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Abnormality of neurona... ORPHA:2772
Familial Colorectal Cancer Type X
Abnormal pyramidal sign, Hypertonia, Neoplasm of the breast, Renal neoplasm, Pancreatic adenocarc... ORPHA:440437
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... ORPHA:3464
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydratio... ORPHA:90794
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Loss of ambulation, Thrombocytopenia OMIM:615010
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Central hypothyroidism, Dehydration, Primary hypothyroidism, Failure to... ORPHA:95427
Galactosemia Iii
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly OMIM:230350
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Coach Syndrome 1
Encephalocele, Hepatomegaly, Optic disc pallor, Cerebellar vermis hypoplasia, Occipital encephalo... OMIM:216360
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropen... OMIM:603552
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Decreased proportion of CD4-positive help... ORPHA:543
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Failure to thrive, Small f... OMIM:557000
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis OMIM:612126
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive ORPHA:172
Immunodeficiency 16
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Se... ORPHA:3085
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphoma, Thyro... ORPHA:39041
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Renal cyst, Multiple l... OMIM:135150
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Paresthesia, Muscular edema ORPHA:3165
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spasticity, Pa... ORPHA:363717
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat... OMIM:616005
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Laurence-Moon Syndrome
Hypoplasia of penis, Ataxia, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Type II diabet... ORPHA:2377
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Desmoid Tumor
Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of the skin, Fibroma, Hydronephr... ORPHA:873
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Hepatomegaly, Myelodysplasia, Anemia of ... ORPHA:75564
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Peutz-Jeghers Syndrome
Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Esoph... ORPHA:2869
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Tremor, Dehydration, Anemia, Neutropenia, Failure to thrive, Thromboc... OMIM:251100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Disproportionate tall stature, Tall stature OMIM:309520
Fg Syndrome Type 1
Broad-based gait, Hypospadias, Cryptorchidism, Small pituitary gland, Slender build ORPHA:93932
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Ataxia, Splenomegaly, Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... OMIM:615849
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Trisomy X
Secondary amenorrhea, Multicystic kidney dysplasia, Tall stature, Renal hypoplasia/aplasia ORPHA:3375
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo... OMIM:613101
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Abnormality of the urinary system, Abnormality of neuronal migration, Hepatomegaly ORPHA:2204
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Weight loss ORPHA:141152
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Renal agenesis, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasi... ORPHA:247768
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Weight loss ORPHA:103910
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... ORPHA:201
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypogonado... OMIM:241080
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... ORPHA:97278
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia OMIM:618093
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Tuberculosis
Weight loss ORPHA:3389
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Birth length g... ORPHA:314588
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Yellow Nail Syndrome
Renal neoplasm, Yellow nails, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia ... ORPHA:662
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... OMIM:619476
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Abnormality of neuronal migration, Thrombocytopenia ORPHA:1980
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss ORPHA:2198
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Thrombocytopenia, Intention tremor OMIM:610539
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Congenital Myopathy 9A
Akinesia, Cryptorchidism, Obesity, Tongue fasciculations, Oligohydramnios OMIM:618822
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic ... ORPHA:284
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility, Ataxia OMIM:613909
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary carcinoid tumor, Small intesti... ORPHA:100093
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Cryptorchidi... OMIM:257300
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Failure to thrive, Dehydration OMIM:251120
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Steinert Myotonic Dystrophy
Brain neoplasm, Decreased response to growth hormone stimulation test, Non-medullary thyroid carc... ORPHA:273
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Edema, Tremor, Splenomegaly, Abnormal immunoglobulin lev... ORPHA:3162
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Synophrys, Disproportionate tall sta... ORPHA:3063
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Splenomegaly, Ascites, Anemia, Oligohydramnios ORPHA:1046
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Overweight, Hyperkinetic movements... ORPHA:457240
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm... ORPHA:2584
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Obesity, Dysm... ORPHA:93952
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Low ante... ORPHA:99812
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops feta... OMIM:269920
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... ORPHA:157941
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Dermatomyositis
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... ORPHA:221
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Dehydration, Portal fibrosis, Hepatic... OMIM:619377
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... ORPHA:37748
Aicardi-Goutieres Syndrome 9
Edema, Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic ane... OMIM:619487
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Patent ductus arteriosus, Obesity, Chiari malformation, Proportionate tall statur... ORPHA:404443
Immunodeficiency 9
Failure to thrive, Hypoplasia of the thymus, Difficulty walking OMIM:612782
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Spasticity OMIM:619983
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegal... OMIM:257200
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Weight loss, C... ORPHA:399
Thymoma
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Abnormal lymphocyte proliferat... ORPHA:99867
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,... ORPHA:2234
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia OMIM:605231
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Dandy-Walker malformation, Hepatomegaly, Portal hypertension, Malform... OMIM:208540
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Reduced natu... OMIM:618261
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... OMIM:226990
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gland morphology, ... ORPHA:2298
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Sialidosis Type 2
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Obesity, Re... ORPHA:171839
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Edema, Splenomegaly, Leukocytosis, Hypochr... ORPHA:77297
Pleural Mesothelioma
Hepatomegaly, Pleural effusion, Weight loss, Lymphadenopathy ORPHA:50251
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema,... ORPHA:381
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Patent ductus... ORPHA:33001
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Renal Hypoplasia, Bilateral
Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chronic kidney dis... ORPHA:97362
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Middle Ear Neuroendocrine Tumor
Facial palsy, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lympho... OMIM:256550
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Lissencephaly, Failure to thrive, Polymicrogyria OMIM:614883
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Increased body weight ORPHA:890
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Myelodysplasia, Abnormality of the menstrual cycle ORPHA:721
Erythrokeratodermia Variabilis
Diabetes mellitus, Abnormal testis morphology, Neoplasm of the skin, Weight loss ORPHA:317
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Optic atrophy, Hypogonadism, Type II diabetes mel... ORPHA:791
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Periorbital edema, Abnormal circulating... OMIM:618048
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Cardiomegaly, Leiomyosarcoma, Neoplasm, Hepatobl... ORPHA:116
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Periodic paralysis, Goiter OMIM:188580
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo... ORPHA:97360
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Meningocele, Abnormality of neuronal migration, Melanoma, Neoplasm, Chi... ORPHA:2481
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Patent ductus arteriosus, Obesity, Renal hypopl... OMIM:615996
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Ataxia, Dehydration, Weight loss, Apraxia, Pancreat... ORPHA:99885
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Hydrocephalus, Obesity, L... ORPHA:2183
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Polyhydr... OMIM:243150
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ataxia, Ganglioneuroblastoma, Weight loss, Myoclonus, Neuroblastoma, Failure to t... OMIM:256700
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Renal insufficiency, Oc... ORPHA:1454
Kennedy Disease
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... ORPHA:481
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter,... ORPHA:3378
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Hydrocephalus, Abnormality of the ureter, Re... ORPHA:1834
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy ORPHA:26790
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Gait disturbance, Increased body weight, Hand tremor ORPHA:589905
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Gonadoblastoma, Abnormal... OMIM:194072
Idiopathic Achalasia
Weight loss ORPHA:930
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative d... OMIM:614700
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... OMIM:214700
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Meckel Syndrome, Type 9
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Breast carcinoma, Hepatosplenomegaly, Lym... ORPHA:1333
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Renal cyst OMIM:174050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperinsuline... ORPHA:276608
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Dehydration OMIM:620126
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... OMIM:620210
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity ORPHA:2233
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... ORPHA:97280
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Optic nerve dysplasia, A... OMIM:214110
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Hepatomegaly, Hepatosplenomegaly, Ascites, Polycystic kidney dysplasia, Failu... OMIM:608776
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Walker-Warburg Syndrome
Hypoplasia of penis, Abnormal cortical gyration, Cryptorchidism, Polymicrogyria, Hydrocephalus, O... ORPHA:899
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Dehydration OMIM:620125
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
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Malformation of the hepatic ducta... OMIM:614175
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive OMIM:619868
Joubert Syndrome 37
Hepatomegaly, Cerebellar vermis hypoplasia, Cryptorchidism, Obesity, Hydronephrosis, Sparse hair,... OMIM:619185
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Decreased circulating antibody leve... ORPHA:353298
Shigellosis
Failure to thrive in infancy, Abscess, Leukocytosis, Peritonitis, Cholestasis, Dehydration, Micro... ORPHA:810
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased... OMIM:146510
Familial Renal Glucosuria
Elevated hemoglobin A1c, Abnormal circulating insulin concentration, Dehydration ORPHA:69076
Familial Cold Urticaria
Dysesthesia, Dehydration ORPHA:47045
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... OMIM:610199
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... ORPHA:464329
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Ataxia, Edema, Reduced natural killer cell activity, Splenomegaly, Ja... OMIM:603553
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Lymphangioma, Hamartoma, Neoplas... ORPHA:137608
Obesity And Hypopigmentation
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesi... ORPHA:464282
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Cowden Syndrome 1
Hyperthyroidism, Dysplastic gangliocytoma of the cerebellum, Goiter, Fibroadenoma of the breast, ... OMIM:158350
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... OMIM:602579
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocellu... ORPHA:47612
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Impaired distal vibration sensation, Impaired vibration sensation ... OMIM:604360
Netherton Syndrome
Hypernatremic dehydration, Decreased circulating IgG level, Angioedema, Increased circulating IgE... OMIM:256500
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Monosomy 22
Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... ORPHA:96123
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Splenomegaly, Anemia, Redu... OMIM:616050
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot... ORPHA:352682
Liposarcoma
Weight loss, Abnormality of the kidney, Sarcoma ORPHA:69078
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
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
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... OMIM:267010
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, P... ORPHA:199299
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis ORPHA:75234
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas ORPHA:2924
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchid... ORPHA:1827
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Optic... OMIM:616171
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Increased ci... ORPHA:29073
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Tremor... OMIM:222300
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Failu... ORPHA:1018
Cholesteryl Ester Storage Disease
Hepatomegaly, Failure to thrive, Adrenal calcification, Bone-marrow foam cells, Portal hypertensi... OMIM:278000
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Lymphedema, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia ORPHA:2930
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu... OMIM:619510
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Symmetrical Thalamic Calcifications
Failure to thrive, Abnormality of neuronal migration ORPHA:1314
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Ataxia, Splenomegaly, Cirrhosis, Failure to thrive, Limb hypertonia OMIM:613489
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... OMIM:615191
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Hypogonadism, Myoclonus, Diabetes insipidus ORPHA:97229
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Oculocerebrocutaneous Syndrome
Alopecia, Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Dandy-Walker malformation OMIM:164180
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Renal cyst... OMIM:611134
Basal Cell Nevus Syndrome 2
Angiofibromas, Hydrocephalus, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Chromosome 16P13.3 Deletion Syndrome, Proximal
Abnormality of the kidney, Obesity, Polysplenia, Facial hypertrichosis, Failure to thrive, Abnorm... OMIM:610543
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... ORPHA:911
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabete... ORPHA:1133
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Paresthesia... ORPHA:298
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive, Abnormality of neuronal migration OMIM:236795
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w... ORPHA:64744
Wagr Syndrome
Cryptorchidism, Obesity, Dysfunction of lateral corticospinal tracts, Ambiguous genitalia, Displa... ORPHA:893
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... ORPHA:887
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ... OMIM:607361
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Abnormality ... ORPHA:991
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Enlarged tonsils, Abnormal circulating insulin concentration, Truncal ... ORPHA:293964
Nodular Non-Suppurative Panniculitis
Splenomegaly, Weight loss, Edema, Hepatomegaly ORPHA:33577
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct... ORPHA:65759
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Lymphoproliferative disorder, J... ORPHA:276
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Polymicrogyria... ORPHA:912
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Femoral-Facial Syndrome
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... ORPHA:1988
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Desmosterolosis
Renal agenesis, Abnormal cortical gyration, Renal hypoplasia/aplasia, Pachygyria, Splenomegaly, P... ORPHA:35107
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal ... OMIM:618124
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Joubert Syndrome 33
Oculomotor apraxia, Splenomegaly, Ataxia OMIM:617767
Eosinophilic Gastroenteritis
Eosinophilia, Edema, Leukocytosis, Weight loss, Ascites, Anemia ORPHA:2070
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Abnormality of the endocrine system, ... ORPHA:166035
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... OMIM:616222
Lymphangioleiomyomatosis
Renal neoplasm, Abnormal urinary color, Retinal hamartoma, Renal angiomyolipoma, Hydrocephalus, A... ORPHA:538
Nephroblastoma
Lymphadenopathy, Neoplasm of the lung, Weight loss, Neoplasm of the liver, Neoplasm, Hematuria, N... ORPHA:654
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... OMIM:612526
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Renal cyst, Horseshoe kidney, Intrahepati... OMIM:614815
Periventricular Nodular Heterotopia 7
Optic disc pallor, Cryptorchidism, Gray matter heterotopia, Periventricular nodular heterotopia, ... OMIM:617201
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:300310
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Lymphoma, Obesity, Azoosperm... ORPHA:10
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Nephronophthisis 16
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip... OMIM:615382
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Dehydration, Weight loss ORPHA:92050
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss, Pleural effusion ORPHA:2902
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Pediatric-Onset Graves Disease
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, In... ORPHA:525731
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... ORPHA:3208
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Fetal ascites, Splenomegaly, Primary adrenal insufficiency, Cho... OMIM:261515
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Precocious puberty, High anterior hairline, Low anterior hairline, Unilateral renal h... OMIM:619950
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... ORPHA:983
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Gray matter heterotopia, Facial diplegia, Pachygyria, Cerebellar cyst ORPHA:370980
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Hydrocepha... ORPHA:261344
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... ORPHA:347
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Non-Hodgkin lymphoma, Lymphoproliferative disorder, Abnormality of thyroid phy... ORPHA:1830
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Thrombocytosis, ... ORPHA:84064
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Doors Syndrome
Adrenal hyperplasia, Polyhydramnios, Congenital hypothyroidism, Capillary hemangioma, Myoclonus, ... ORPHA:79500
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Hydrocephalus, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized ... ORPHA:626
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Whipple Disease
Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pyramidal sig... ORPHA:3452
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Joint swelling, Lipogranulomatosis, Failure to thrive OMIM:228000
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility, Fasciculations OMIM:313200
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Chemodectoma, Glomus jugular tumor, Neoplasm OMIM:601650
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Joubert Syndrome 16
Encephalocele, Renal cyst, Dandy-Walker malformation, Nephronophthisis OMIM:614465
Amyloidosis, Familial Visceral
Edema, Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... ORPHA:71493
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mass, Genital neop... ORPHA:2126
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperec... OMIM:613885
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Spina bifida, Asplenia, Cryptorchidism, Patent ductus arter... ORPHA:99776
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Abnormality of the thyroid gland, Primary adrenal insu... ORPHA:2047
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Angioedema, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Lymphocytosis ORPHA:139402
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Facial palsy, Supernumerary nipple, Optic nerve hypoplasia, Sparse ... ORPHA:261349
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis, 3-Methylgl... ORPHA:445038
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts ORPHA:3033
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Perlman Syndrome
Nephrogenic rest, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephroblastomatosis... OMIM:267000
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl... ORPHA:261494
Systemic Capillary Leak Syndrome
Leukocytosis, Pedal edema, Weight loss, Multiple myeloma, Pleural effusion, Pancreatitis, Pulmona... ORPHA:188
Myopathy With Extrapyramidal Signs
Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Clumsiness, Choreoathet... OMIM:615673
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Hydrocephalus, Chronic kidney disease, ... OMIM:615630
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Hemimegalencephaly
Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity OMIM:615981
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Dehydration, Chor... ORPHA:2131
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Enlarged cerebellum, Hydrocephalus, Ovarian neoplasm, Trichilemmoma, ... ORPHA:65285
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Dandy-Walker malfor... OMIM:603194
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Edema, Hypertonia, Hepatic steatosis, Hypothyroidism, Hemolytic anem... OMIM:615846
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohy... ORPHA:163596
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
B4Galt1-Cdg
Hepatomegaly, Small for gestational age, Edema, Splenomegaly, Hypothyroidism ORPHA:79332
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus, Red-brown urine, Stage... ORPHA:157
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation, Hyperinsulinemia, Anemia, Dehydration ORPHA:230
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m... ORPHA:2075
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Lymphoma, Thyroiditis, Weight loss, Iron deficiency anemia, Infertilit... OMIM:212750
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocy... ORPHA:158029
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Diabetes insipidus, Hypertonic dehydration OMIM:304800
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Speech apraxia, Unilateral cryptorchidism, Large for gestational age, Overgrowth, Tall stature ORPHA:137634
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Cerebellar hypoplasia, Multinucleated neuron, Hy... OMIM:236500
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Failure to thrive, Hypertonic dehydration OMIM:125800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arte... OMIM:615398
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thrombocytopenia, Jaundice, Hydrocephal... ORPHA:858
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... ORPHA:438274
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoplasia of penis, Ureteral duplication, Hypospadias, Nephroblastoma, Supernumera... ORPHA:373
Thyroid Lymphoma
Hyperthyroidism, Lymphoma, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Lymphadenopathy, Anemia, Leukopenia, H... OMIM:267700
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis ORPHA:98897
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism,... OMIM:612541
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Small for gestational age, Unilate... ORPHA:464306
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Patent ductus arteriosus, Hydrocephalus, Anencep... OMIM:269860
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Megaloblastic anemia, Jaundice, Hydrops fetalis, Dehydration, Poor fine motor coordinatio... ORPHA:79282
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Joubert Syndrome 35
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, H... OMIM:618161
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality of the lymphat... ORPHA:1414
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal hypoplasia, Pseudohypoparathyroidism, ... ORPHA:464288
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Cerebellar vermis hypoplasia, Highly arched eyebrow, Supernumerary nipple, Cryptor... OMIM:618454
Meckel Syndrome, Type 6
Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anenceph... OMIM:612284
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... ORPHA:300573
Netherton Syndrome
Increased circulating IgE level, Dehydration, Decreased circulating antibody level ORPHA:634
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemi... ORPHA:77259
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellitus, Renal hypoplasia/aplasia, C... ORPHA:261265
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Optic ne... ORPHA:370959
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Gm1 Gangliosidosis
Ataxia, Tremor, Splenomegaly, Unsteady gait, Hydrops fetalis, Weight loss, Hepatosplenomegaly, Ab... ORPHA:354
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... OMIM:615512
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchid... ORPHA:464311
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, De... OMIM:219800
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Hypergo... OMIM:212065
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Facial capillary hemangioma, Renal cyst, Chiari type I malformation... OMIM:270400
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis, Oligohydramnios OMIM:611812
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Micron... OMIM:606003
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... ORPHA:93111
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes,... ORPHA:324575
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati... ORPHA:264580
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
Pneumocystosis
Abnormal neutrophil count, Weight loss, Neoplasm, Increased circulating antibody level, Pleural e... ORPHA:723
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Addison Disease
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Primary testicular f... ORPHA:85138
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... OMIM:224120
Cln3 Disease
Cerebellar atrophy, Vacuolated lymphocytes, Optic atrophy, Increased circulating androgen concent... ORPHA:228346
Holoprosencephaly
Hypoplasia of penis, Abnormality of the spleen, Synophrys, Panhypopituitarism, Holoprosencephaly,... ORPHA:2162
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Poor fine motor coordination, Obesity ORPHA:254525
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Red hair, Fai... OMIM:614613
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Excessive in... ORPHA:276575
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Myelodysplasia, Absence of lymph node g... OMIM:608184
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Fa... OMIM:219700
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary... ORPHA:90003
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:619644
Meckel Syndrome, Type 5
Anencephaly, Occipital encephalocele, Bile duct proliferation, Renal cyst OMIM:611561
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Epididymitis... ORPHA:2035
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Cerebellar vermis hypoplasia, Dicarboxylic aciduria, Cardiomeg... ORPHA:228308
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... ORPHA:96191
Joubert Syndrome 2
Encephalocele, Renal insufficiency, Agenesis of cerebellar vermis, Hydrocephalus, Optic disc colo... OMIM:608091
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Obesity OMIM:612463
Brucellosis
Liver abscess, Chorea, Leukopenia, Abnormality of the liver, Increased circulating IgG level, Hep... ORPHA:1304
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Polycystic kidney dysplasia OMIM:617562
Malignant Peritoneal Mesothelioma
Peritonitis, Pedal edema, Weight loss, Neoplasm, Ascites ORPHA:168811
Cowden Syndrome 6
Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hamartomatous... OMIM:615109
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Hamartoma of tongue, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Ren... OMIM:616300
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mel... ORPHA:276580
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Renal agenesis, Cryptorchidism, Splenomegaly, Low anteri... OMIM:618440
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Isolated Exencephaly
Polyhydramnios, Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes ORPHA:563612
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Por... ORPHA:3202
H Syndrome
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Diabetes mellitus, Abnormality of the kidne... ORPHA:168569
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
3C Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Hydrocephalus, Optic atrophy, Abnormality o... ORPHA:7
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Palpebral edema, Thrombocytopenia, Splenomegal... ORPHA:50918
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Dysesthesia, Jaundice, Neutrophilia in presence of infect... ORPHA:99826
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Rabson-Mendenhall Syndrome
Enlarged ovaries, Clitoral hypertrophy, Thick hair, Precocious puberty, Hypothyroidism, Insulin-r... ORPHA:769
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... ORPHA:449400
Nephronophthisis 14
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Laurence-Moon Syndrome
Small scrotum, Ataxia, Spastic paraplegia, Obesity, Micropenis OMIM:245800
2Q37 Microdeletion Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Highly arched eyebrow, Supernumerary nipple, Spa... ORPHA:1001
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Pachygyr... OMIM:614922
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... OMIM:137440
Attrv30M Amyloidosis
Impotence, Weight loss, Cardiomegaly ORPHA:85447
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ... ORPHA:171
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Hydrops fetalis, Hypertonia,... ORPHA:85212
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Gray matter heterotopia, Pachygyria, Unilateral renal agenesis ORPHA:2512
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Small for gestational age, Polyhydramnios, Dehydration, Hyperactive renin-an... OMIM:601678
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Vocal cord paralysis, Weight loss, Paraganglioma ORPHA:94080
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutr... ORPHA:520
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Pachygyria, Splenomegaly, Jaundice, Patent ductus arteriosus, ... OMIM:251290
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Failure to thrive, Hypospadias ORPHA:2115
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Dehydration OMIM:615453
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the ureter, Obesity, Hypogonadism ORPHA:3409
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss, Lymphadenopathy ORPHA:411703
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Hyperparathyroidism, Clonus, Cryptorchidism, Dehyd... ORPHA:534
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Renal agenesis, Highly arched eyebrow, Hamartoma of tongue, Bilater... ORPHA:2754
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Myelodysplasia, Pancreatic cysts, Abnormality of the ... ORPHA:1318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of c... OMIM:615287
Hydranencephaly
Thalamic edema, Spastic diplegia, Opisthotonus, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hypertonia, Hemophagocytosis... ORPHA:79477
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Anemia, Weight loss ORPHA:1842
Noonan Syndrome 8
Polyhydramnios, Large for gestational age, Cryptorchidism, Left ventricular hypertrophy, Pleural ... OMIM:615355
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Polyhydramnios OMIM:160900
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Overgrowth, Enlarged kidney, Large for gestational age OMIM:618272
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... OMIM:249000
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hypothyroid... ORPHA:1606
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low posterior hairline, ... OMIM:300860
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... ORPHA:96149
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepati... OMIM:304790
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... ORPHA:100080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:608840
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Pyruvate Carboxylase Deficiency
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Dehydration, Tip-toe gait, Failure to thrive ORPHA:3008
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Sparse eyebrow, Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Niemann-Pick Disease, Type C1
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Sea-blue ... OMIM:257220
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Small for gestational age, Unilateral renal... OMIM:620024
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Im... OMIM:157640
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Larg... OMIM:229850
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Tremor, Leukocytosis, Chorea, Dehydration, Thrombocytosis, Thro... ORPHA:94093
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa... OMIM:260920
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Periorbital edema, Splenomegaly, Lymphadenopathy, Anemia, Increa... OMIM:617591
Cornelia De Lange Syndrome 1
Ectopic kidney, Synophrys, Renal cyst, Vesicoureteral reflux, Hypospadias, Curly eyelashes, Highl... OMIM:122470
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Abnormal neuron morphology, Precocious puberty, Obesity, Abnormality of neuronal mi... ORPHA:163681
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Trisomy 17P
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hydrocephalus, ... ORPHA:261290
Xq21 Microdeletion Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... ORPHA:1435
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Hemangioma, Polymicrogyria ORPHA:457485
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Increased body weight, Hepatoce... ORPHA:79240
Chops Syndrome
Curly hair, Thick hair, Cryptorchidism, Synophrys, Splenomegaly, Patent ductus arteriosus, Obesit... OMIM:616368
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Abnormalit... ORPHA:79320
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Dehydration, Microangiopathic hemolyt... ORPHA:90038
Joubert Syndrome 7
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Polycystic kidney dysplas... OMIM:614091
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Synophrys, Simplified gyral pattern, Microlissen... OMIM:616212
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Highly arched eyebrow... OMIM:614424
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Cerebellar atrophy, Precocious puberty, Patent ductus arteriosus, Obesity, Re... ORPHA:369837
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Dehydration, Clumsiness, Hyperactive renin-angiotensin... ORPHA:89938
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Small pituitary gland, Dysgenesis of the cerebellar vermis, Micropenis, Hypertrichosis OMIM:619479
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, H... OMIM:615989
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Cryptorchidism, Hydronephrosis ORPHA:531151
Branchiootorenal Syndrome 1
Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Po... OMIM:113650
Q Fever
Hepatomegaly, Pericardial effusion, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hepatosplen... ORPHA:781
Fanconi Anemia, Complementation Group S
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... OMIM:617883
Aspartylglucosaminuria
Macroorchidism, Splenomegaly, Aspartylglucosaminuria, Hepatomegaly ORPHA:93
Holocarboxylase Synthetase Deficiency
Ataxia, Thrombocytopenia, Weight loss ORPHA:79242
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Maternal diabetes, Large for gestational age ORPHA:45452
Leber Congenital Amaurosis
Encephalocele, Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasia/Hypopla... ORPHA:65
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitone... ORPHA:79078
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Primary hypercortisolism, Ovarian neoplasm, ... ORPHA:100079
Renpenning Syndrome
Diabetes mellitus, Hypospadias, Decreased testicular size, Cachexia ORPHA:3242
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, High... OMIM:614527
Duplication Of The Pituitary Gland
Lower limb spasticity, Polyhydramnios, Abnormal pituitary gland morphology, Abnormal hypothalamus... ORPHA:314621
Verheij Syndrome
Renal agenesis, Optic nerve hypoplasia, Small for gestational age, Renal hypoplasia, Renal cyst OMIM:615583
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Ach... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Down Syndrome
Renal hypoplasia/aplasia, Abnormality of the lymphatic system, Decreased fertility, Obesity, Type... ORPHA:870
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Periventricular heterotopia, Cryptorchidism, Synophrys, Low posterior hairl... OMIM:618929
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Orofaciodigital Syndrome I
Dry hair, Alopecia, Proteinuria, Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cyst... OMIM:311200
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Ataxia, Clonus, Cachexia, Parkinsonism, Head titubation, Inability to walk... ORPHA:300605
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ... ORPHA:177907
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Pancreatitis, Second... ORPHA:2348
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Malt Lymphoma
B-cell lymphoma, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy, ... ORPHA:52417
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Neoplasm, Menorrhagia ORPHA:168816
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Edinburgh Malformation Syndrome
Synophrys, Hydrocephalus, Abnormality of neuronal migration, Low posterior hairline, Failure to t... ORPHA:1895
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Synophrys, Low anterior ... OMIM:619312
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchi... ORPHA:466791
Harlequin Ichthyosis
Dehydration ORPHA:457
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Broad-based gait, Decreased response to growth hormone stimulation test, Portal... OMIM:619503
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Pancreatitis, Ins... ORPHA:79083
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Patent ductus arteriosus, Cerebellar hypoplasia, Abnormality of neuronal... OMIM:300049
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Xerostomia, Weight loss, Abnormality of the liver, Peripheral ... ORPHA:85443
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Tremor, Hyperinsulinemia, Increased body weight, Pancrea... ORPHA:263455
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Polymicrogyri... OMIM:608022
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... ORPHA:288
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiectas... ORPHA:1655
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Tall stature, Cerebellar vermis hypoplasia, Hypospadias, Hypoplasia of the pons, Cryptorchidism, ... OMIM:616975
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... OMIM:618398
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Thyroiditis, Scler... ORPHA:2137
Simple Cryoglobulinemia
Viral hepatitis, B-cell lymphoma, Monoclonal elevation of circulating IgA, Monoclonal elevation o... ORPHA:91139
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep... OMIM:619381
Arima Syndrome
Cerebellar vermis hypoplasia, Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointers... OMIM:243910
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Lymphoma, Lymphaden... ORPHA:36412
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestas... ORPHA:79303
Joubert Syndrome 20
Renal cyst OMIM:614970
Autosomal Dominant Centronuclear Myopathy
Peripheral axonal neuropathy, Urinary incontinence, Large for gestational age, Cryptorchidism, Ca... ORPHA:169189
Pseudo-Torch Syndrome 2
Hepatomegaly, Patent ductus arteriosus, Gray matter heterotopia, Cerebellar hypoplasia, Abnormal ... OMIM:617397
Microphthalmia, Syndromic 3
Optic nerve aplasia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, O... OMIM:206900
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Lethal Congenital Contracture Syndrome 10
Torticollis, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thymus, Oligohydramnios OMIM:617022
Carpenter Syndrome 1
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Patent ductus arter... OMIM:201000
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorchidi... OMIM:312870
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, Spasticity, Frequen... ORPHA:216866
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Lamellar Ichthyosis
Dehydration ORPHA:313
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of the kidney, Patent ductus arteriosus, Hydrocephalus, Abnormality of... ORPHA:93274
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Aplasia/Hypopla... ORPHA:1052
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... ORPHA:77301
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocytoma cutis, Sterile pyuria, Tu... ORPHA:449395
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agen... ORPHA:468631
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co... OMIM:610829
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... ORPHA:100082
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Colchicine Poisoning
Leukocytosis, Dehydration ORPHA:31824
Mycosis Fungoides
Lymphoma, Neoplasm of the skin, Lymphadenopathy OMIM:254400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, J... ORPHA:829
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticome... OMIM:618541
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... ORPHA:100075
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Bohring-Opitz Syndrome
Dandy-Walker malformation, Thick hair, Supernumerary nipple, Delayed peripheral myelination, Low ... OMIM:605039
Distal Renal Tubular Acidosis
Hemolytic anemia, Failure to thrive, Dehydration, Paralysis ORPHA:18
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Cryptorchidism, Obesity, Upper eyelid edema, Failure to thrive ORPHA:412035
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis... OMIM:235255
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abnormality of... ORPHA:480520
Essential Thrombocythemia
Myelodysplasia, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Paresthesia ORPHA:3318
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, ... ORPHA:90033
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, ... OMIM:300972
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... ORPHA:1572
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Neoplasm, Sparse hair, Hepatom... ORPHA:1775
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Highly arched eyebrow, Hydrocep... ORPHA:2318
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Autoimmune ... ORPHA:37042
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,... OMIM:614034
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts ORPHA:66637
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Decreased T cell activation, Inc... OMIM:618213
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Perica... OMIM:181000
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Splenomegal... ORPHA:251066
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy... ORPHA:3301
Igg4-Related Ophthalmic Disease
Palpebral edema, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Orchitis, Retroperi... ORPHA:449563
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogo... ORPHA:96263
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia, Spinal dysraphism, Overgrowth, Lipoma, Nephroblastoma OMIM:612918
Christianson Syndrome
Truncal ataxia, Cachexia, Gait ataxia ORPHA:85278
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, R... ORPHA:647
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Secondary... ORPHA:488618
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Nephrocalc... ORPHA:94086
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T... OMIM:614520
Neu-Laxova Syndrome
External genital hypoplasia, Abnormal cortical gyration, Spina bifida, Abnormal eyelash morpholog... ORPHA:2671
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Alopecia, Multicystic kidney dysplasia, Hydrour... ORPHA:79404
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Patent ductus arteriosus, Low ... OMIM:220500
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Failure to thrive in infancy,... ORPHA:798
Infantile Nephropathic Cystinosis
Failure to thrive, Abnormality of thyroid physiology, Dehydration ORPHA:411629
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Paten... ORPHA:2473
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Nabais Sa-De Vries Syndrome, Type 2
Sparse eyebrow, Hypothyroidism, Multicystic kidney dysplasia, Failure to thrive in infancy OMIM:618829
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Sparse scalp hair, Hepatomegaly, Fair hair, Ureteral duplication, Cholangitis, P... OMIM:266920
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive OMIM:235555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Pleural empyema, Pleural effusion, Anemia ORPHA:67
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Ataxia, Abnormality of neutrophils, Periorbital edema, Splenomeg... ORPHA:33226
Pituitary Adenoma 4, Acth-Secreting
Edema, Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity, Oligomeno... OMIM:219090
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Spastic tetraplegia, Gait disturbance, Sea-blue histiocytosis... OMIM:230600
Pachydermoperiostosis
Hepatomegaly, Cerebral palsy, Elevated circulating growth hormone concentration, Impaired tempera... ORPHA:2796
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Encephalocele, Hypospadias, Abnormal cortical gyration,... ORPHA:2211
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyp... OMIM:241200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Ataxia, Portal hypertension, Splenomega... OMIM:615688
Niemann-Pick Disease, Type C2
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Polyhydramnios, Splenomegaly, Jaundi... OMIM:607625
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Joubert Syndrome 1
Optic disc pallor, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Highly arched eye... OMIM:213300
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Optic atrophy, Primary adrenal insufficiency, Abnormality of neuronal m... ORPHA:44
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait OMIM:168605
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Spastic paraplegia, Obesity, Lower limb hypertonia, Tip-toe gait, Dilated third v... OMIM:617296
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Epidermal Nevus Syndrome
Lipoma, Polycystic kidney dysplasia, Spinal cord tumor, Rhabdomyosarcoma ORPHA:35125
Takayasu Arteritis
Anemia, Weight loss ORPHA:3287
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Tremor, Thrombocytopenia, Spleno... OMIM:214500
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremic dehydration, Failure to thrive, Polyhydramnios ORPHA:223
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Cachexia, Tremor, Obesity, Hypogonadism, Decreased testicu... ORPHA:85293
Renal Hypoplasia
Small for gestational age, Dehydration ORPHA:93101
Mevalonic Aciduria
Cerebellar atrophy, Normocytic hypoplastic anemia, Optic disc pallor, Agenesis of cerebellar verm... OMIM:610377
Glutathionuria
Gray matter heterotopia, Urinary incontinence, Glutathionuria OMIM:231950
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy... OMIM:607364
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Abnormal central motor function, ... ORPHA:3385
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Obesity OMIM:600151
Hajdu-Cheney Syndrome
Thick eyebrow, Hypospadias, Short nail, Cryptorchidism, Synophrys, Patent ductus arteriosus, Hydr... OMIM:102500
Chédiak-Higashi Syndrome
Edema, Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Atax... ORPHA:167
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Periventricular nodular heterotopia, Cryptorchidism, Subcortical band... OMIM:615546
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Ataxia, Polyhydramnios, Splenomegaly, Jaundice, Inability to walk... OMIM:608885
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Fine hair, Hydron... ORPHA:85201
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Va... OMIM:273395
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hamartoma of tongue, Hydrocephalus, Anencephaly, Polycystic kidney ... OMIM:616546
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Abnormal cortical gyration, Renal hyp... ORPHA:2538
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... OMIM:616084
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Ataxia, Pericardial effusion, Splenomegaly, Hydrops fetalis, Anemia, ... ORPHA:77261
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion ORPHA:85414
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Meningocele, Renal cyst ORPHA:2031
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, Babinski sign, Trunc... OMIM:301072
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Lymphedema, Overweight, Inability to walk, Paraparesis, Obesity, Gait distu... ORPHA:2822
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Premature graying of hair, Leukop... OMIM:305000
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Papilledema, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, ... ORPHA:99818
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Impaired pain sensation OMIM:182290
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, Chiari malformation, Overgrowth, High anteri... OMIM:616831
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Polyhydramnios, Bifid uterus, Adrenal gland dysgenesis, Abnormal v... OMIM:236680
Lesch-Nyhan Syndrome
Megaloblastic anemia, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function... OMIM:300322
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pancreatic fibrosis, Hamartoma of tongue, Hepatic fibrosis, Polycys... OMIM:263520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Rigidity, Splenomegaly, Micronodular cirrhosis, Jaundice, Copp... ORPHA:309854
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, Gray matter heterotopia, 3-M... ORPHA:26791
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Ataxia, Retroperitoneal fibrosis, Weight loss, Joint swelling, Ple... ORPHA:35687
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplasm of the heart, Megacystis ORPHA:2241
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Large for gestational age, Renal cyst, Overgrowth, Neph... OMIM:617107
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Alkuraya-Kucinskas Syndrome
Small scrotum, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Micr... OMIM:617822
Ménétrier Disease
Peripheral edema, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Hepatic steatosis ORPHA:42
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity OMIM:616801
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Encephalocele, Periventricular nodular heterotopia, Optic nerv... OMIM:603671
Khan-Khan-Katsanis Syndrome
Lymphopenia, Ureteral duplication, Cerebellar vermis hypoplasia, Patent ductus arteriosus after p... OMIM:618460
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Poor coordination, Biliary tract abnor... OMIM:209900
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Hypothyroidism, Hypop... ORPHA:567
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Pa... ORPHA:424019
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin... OMIM:608594
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Cachexia, Weight loss ORPHA:1979
Vici Syndrome
Decreased circulating IgG level, Failure to thrive, Left ventricular hypertrophy, Decreased circu... OMIM:242840
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Adrenal hypopla... ORPHA:95409
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Highly arched eyebrow, Hamartoma of tongue, Gray matter heterotopia... OMIM:619775
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Patent ductus arteriosus, Decreased response to growth hormone stimulation test,... OMIM:617260
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Decreased fertility, Renal hypoplasia, Breast aplas... ORPHA:3138
Ileal Neuroendocrine Tumor
Edema, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Small inte... ORPHA:100078
Sotos Syndrome
Abnormality of the kidney, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Increased bo... OMIM:117550
Wagro Syndrome
Decreased testicular size, Proteinuria, Multiple exostoses, Obesity, Nephroblastoma, Hypoplastic ... OMIM:612469
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Chordee, Failure to thrive OMIM:151050
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Abnormality of neuronal migration ORPHA:2063
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Edema, Anemia, Weight loss ORPHA:324964
Wild Type Attr Amyloidosis
Hepatomegaly, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema ORPHA:330001
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Akinesia, Cardiomegaly, Polyhydramnios, Splenomegaly, He... OMIM:608013
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, E... OMIM:615636
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Cryptorchidism, Gray matter heterotopia, Pelvic kidney, Lissencephaly, Pachygy... OMIM:247200
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... OMIM:607459
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasi... OMIM:613091
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum ... OMIM:269700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Agenesis of cerebellar vermis, Sparse eyelashes, Cerebellar vermis hypoplasia,... OMIM:210710
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Hydrocephalus, Optic atrophy, Renal cyst, Polycystic ovaries, Cerebel... ORPHA:137675
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Tall stature, Cachexia, Lymphedema, Visceral angiomatosis, Lympho... ORPHA:109
Man1B1-Cdg
Long eyebrows, Periventricular heterotopia, Sparse eyebrow, Abnormal position of hair whorl, Trun... ORPHA:397941
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Fair hair, Small for gestational age, Abnormality of hair tex... OMIM:610443
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Clumsiness, Weight loss, Decreased circulating total IgM, Ga... ORPHA:420741
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, P... OMIM:613610
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Broad-based gait, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spa... ORPHA:2072
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Delayed pu... ORPHA:1328
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Spasticity ORPHA:702
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Septate vagina, Unil... ORPHA:2237
Thanatophoric Dysplasia
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus, Abnormality of the kidney ORPHA:2655
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypothyroidism, Dehydration ORPHA:411634
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Hamartomatous polyposis, Paresthesia, Anemia OMIM:175500
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Obe... OMIM:181450
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Splenomegaly, Synophrys, Patent ductus arteriosus, Low anterior hairli... ORPHA:955
Oligomeganephronia
Small for gestational age, Dehydration ORPHA:2260
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Elevated hemoglobin A1c, Obesity OMIM:618620
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Sparse scalp hair, Crossed fused renal ectopia, Cerebellar vermis hy... OMIM:619841
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive ORPHA:217346
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Pilomatrixoma, Cryptorch... ORPHA:3310
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Joint swelling OMIM:612852
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... ORPHA:84081
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy OMIM:619183
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular he... OMIM:618273
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Behçet Disease
Ataxia, Orchitis, Splenomegaly, Abnormal pyramidal sign, Weight loss, Lymphadenopathy, Hemiparesi... ORPHA:117
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia ORPHA:169090
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetraplegia, Oculomotor a... OMIM:616267
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Premature graying of hair, Hemangioma, Hydronephrosis ORPHA:1297
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaund... OMIM:251880
Gaucher Disease, Type Ii
Hepatomegaly, Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Failure... OMIM:230900
Hypomelanosis Of Ito
Gray matter heterotopia, Alopecia OMIM:300337
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... ORPHA:158048
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Highly arched eyebrow, Hydrocephalus, Abnormality of... ORPHA:475
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Schwannoma, Abnormal renal morphology, Hydrocephalus, Ossifying fibroma... ORPHA:363700
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Giant Cell Arteritis
Ataxia, Mediastinal lymphadenopathy, Weight loss, Paresthesia, Diabetes insipidus ORPHA:397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Ureteral duplication, Renal dysplasia, Ureteral hypoplasia, Large for gestati... OMIM:614080
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Papa Syndrome
Type I diabetes mellitus, Proteinuria, Lymphadenopathy ORPHA:69126
8P23.1 Microdeletion Syndrome
Cryptorchidism, Hypospadias, Obesity, Weight loss ORPHA:251071
6Q Terminal Deletion Syndrome
Hypospadias, Highly arched eyebrow, Phimosis, Periventricular heterotopia, Low anterior hairline,... ORPHA:75857
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Obesity, Myoclonus, Delayed puberty, Episodic hemolytic anemia, Enlarged kidney ORPHA:251004
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Rectal abscess,... ORPHA:436252
Vici Syndrome
Hypoplasia of the pons, Optic atrophy, Ureteral atresia, Renal tubular acidosis, Gray matter hete... ORPHA:1493
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Jaundice, Optic at... OMIM:614231
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Joubert Syndrome 8
Hepatomegaly, Ataxia, Obesity, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia OMIM:612291
Wilson Disease
Edema, Tremor, Hand tremor, Pedal edema, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia,... OMIM:277900
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Adiposis Dolorosa
Xerostomia, Hypothyroidism, Obesity, Paresthesia ORPHA:36397
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Polyhydramnios, Gait disturbance, Cachexia ORPHA:2774
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyr... OMIM:188400
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Abnormality of the kidney, Retroperitoneal fibros... ORPHA:449432
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Chiari type I malfo... ORPHA:3455
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... ORPHA:567983
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Sparse lateral eyebrow OMIM:619694
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... ORPHA:231632
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thromb... OMIM:301074
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Proximal 16P11.2 Microdeletion Syndrome
Chiari type I malformation, Multicystic kidney dysplasia, Failure to thrive, Obesity ORPHA:261197
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Generalized Pustular Psoriasis
Overweight, Leukocytosis, Obesity, Pedal edema, Lymphopenia ORPHA:247353
Pediatric Systemic Lupus Erythematosus
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, A... ORPHA:93552
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysis, Tremor, Thyrotoxicos... ORPHA:79102
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Blepharospasm, Multiple enchondromatosis, Abn... ORPHA:861
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Varicocele, Pedal edema, Weight loss, Hydrocele testis, Retrograde ejaculation... ORPHA:49041
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Jacobsen Syndrome
Multicystic kidney dysplasia, Spina bifida, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Bo... ORPHA:2308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Hy... OMIM:614643
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Spasticity, Babinski sign, Cachexia OMIM:618186
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis... OMIM:300755
Narcolepsy 7
Cataplexy, Type II diabetes mellitus, Obesity OMIM:614250
Osteosarcoma
Joint swelling, Weight loss ORPHA:668
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Familial Mediterranean Fever
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic sy... ORPHA:342
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphopenia, Sparse axillary hair, Ectopic kidney,... ORPHA:2136
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the cerebellum,... ORPHA:818
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Hamartoma of tongue, Periventricular heter... OMIM:615948
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Ataxia, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Difficult... ORPHA:98907
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Polyhydramnios, Lymphedema, Splenomegaly, Cryptorchidism, Hepat... OMIM:613563
Atelosteogenesis Type I
Multiple renal cysts, Abnormal pancreatic duct morphology ORPHA:1190
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Myelodysplasia, Abnormal preputium morph... ORPHA:84
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ... ORPHA:549
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Phelan-Mcdermid Syndrome
Thick eyebrow, Abnormality of the kidney, Patent ductus arteriosus, Long eyelashes, Polycystic ki... OMIM:606232
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia ORPHA:52503
Congenital Analbuminemia
Small for gestational age, Edema, Facial edema, Obesity, Pedal edema, Increased circulating antib... ORPHA:86816
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insufficiency, Hamartoma of tongue, P... ORPHA:2750
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic hemo... OMIM:611881
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Neutrophilia, Myelodysplasia, Leukocytosis, Angioedema,... ORPHA:3260
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Lymphadenopathy, Joint swelling, Hepatosplenomegaly, Anemia ORPHA:85408
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Hypospadias, Renal agenesis, Supernumerary nipple, Facial palsy, C... OMIM:113620
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Pulmonary edema, Increased... ORPHA:244242
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Failure to thrive, Anterior pituitary hypoplasia, Portal hypertension, Edema, Polyh... OMIM:619534
Zimmermann-Laband Syndrome 1
Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys, Long pen... OMIM:135500
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia, Gonadal dys... OMIM:618820
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... ORPHA:672
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Polymyositis
Hepatomegaly, Gait disturbance, Breast carcinoma, Weight loss ORPHA:732
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Hydrocephalus, Gray matter heterotopia, Tubular luminal dilatation, Renal co... OMIM:219730
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Periorbital edema, Hypoplasia of the thymus, Ascites, Right... OMIM:613177
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Cholera
Dehydration ORPHA:173
Focal Dermal Hypoplasia
Alopecia, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Patent ductus art... ORPHA:2092
Distal Deletion 15Q
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Small for gestational... ORPHA:1596
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Neoplasm of the breast,... ORPHA:79474
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Hypospadias, Failure to thrive, Sm... OMIM:264090
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Cryptorchidism, Gray matter heterotopia, Vesicoureteral reflux, Fail... ORPHA:453499
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
16P13.11 Microdeletion Syndrome
Cryptorchidism, Holoprosencephaly, Abnormality of neuronal migration ORPHA:261236
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Dystrophic toenail, Ri... OMIM:616028
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Patent ductus arteriosus, Capillary hemangioma, Displacement of the... ORPHA:1556
Galloway-Mowat Syndrome
Proteinuria, Aqueductal stenosis, Abnormality of neuronal migration, Nephrotic syndrome, Nephropa... ORPHA:2065
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... ORPHA:107
Van Maldergem Syndrome 1
Hypospadias, Subcortical band heterotopia, Simplified gyral pattern, Renal hypoplasia, Gray matte... OMIM:601390
Sarcoidosis
Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi... ORPHA:797
Trisomy 10P
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Simplified gyral patter... ORPHA:171929
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss OMIM:600072
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Pleural effusion OMIM:249100
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Periventricular heterotopia, Methylmalonic aciduria, Elev... OMIM:614105
Tyrosinemia, Type I
Hepatomegaly, Failure to thrive, Periodic paralysis, Splenomegaly, Pancreatic islet-cell hyperpla... OMIM:276700
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Obesity, Pineal cyst, Cholecystitis, Fasci... ORPHA:98908
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormal eyelash morphology, Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Abnormality of ... ORPHA:2518
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... OMIM:236700
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Peripheral hypomyelination, Multiple renal cysts, Reduced renal cort... OMIM:618733
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Focal Myositis
Weight loss ORPHA:48918
Rett Syndrome
Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity OMIM:312750
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, ... ORPHA:646
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Periventricular heterotopia OMIM:618974
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Larg... ORPHA:500095
Joubert Syndrome 39
Overweight, Occipital encephalocele, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia OMIM:619562
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Gait disturbance, Eosinophilia, Weight loss ORPHA:183
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Large for gestational age, Nephr... OMIM:616026
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Neoplasm of the skin, Hepatomegaly ORPHA:53715
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park... ORPHA:411602
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Fontaine Progeroid Syndrome
Small scrotum, Cerebellar vermis hypoplasia, Synophrys, Low anterior hairline, Coarse hair, Micro... OMIM:612289
Mixed Connective Tissue Disease
Hemolytic anemia, Alopecia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopa... ORPHA:809
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Fraser Syndrome 2
Ambiguous genitalia, Hypoplasia of the thymus, Oligohydramnios OMIM:617666
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss ORPHA:93958
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Vesicoureteral reflux, Micr... OMIM:618653
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Renal agenesis, Precocious puberty, Cryptorchidism, Dilat... ORPHA:2044
Rat-Bite Fever
Abdominal aseptic abscess, Parotitis, Lymphadenitis, Weight loss, Pancreatitis, Anemia ORPHA:31205
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancr... OMIM:619471
Mucolipidosis Type Ii
Splenomegaly, Inability to walk, Weight loss, Hepatosplenomegaly, Left ventricular hypertrophy, O... ORPHA:576
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, High... ORPHA:2322
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Sparse hair, High anterior hairline OMIM:250410
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyebrow, Periventricular heterotopia... ORPHA:261250
Meckel Syndrome 14
Occipital encephalocele, Hepatic fibrosis, Holoprosencephaly, Polycystic kidney dysplasia, Aplasi... OMIM:619879
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia ORPHA:71273
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Chia... OMIM:207950
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Optic atrophy, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Lymphoma, Xerostomia, Hypopla... ORPHA:1896
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney ORPHA:79128
Cornelia De Lange Syndrome
Hypoplasia of penis, Synophrys, Low anterior hairline, Abnormality of the uterus, Vesicoureteral ... ORPHA:199
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Hyperesthesia, Spastic tetraplegia, Cachexia ORPHA:371364
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decereb... ORPHA:206436
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Renal ... ORPHA:857
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Renal hypoplasia, Absence of pubertal development, Gra... ORPHA:314679
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Renal insufficiency, Chronic active hepatitis, Lymphoproliferativ... ORPHA:289390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Long ey... OMIM:619833
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Ap... OMIM:200980
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Choreoacanthocytosis
Impaired vibratory sensation, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary... ORPHA:2388
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex p... ORPHA:98889
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Gray matter heterotopia, Horizontal eyebrow, Vesicoureteral reflux, High a... OMIM:618797
Glossopharyngeal Neuralgia
Dysesthesia, Schwannoma, Vocal cord paralysis, Weight loss, Neoplasm ORPHA:221098
Alagille Syndrome 1
Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Ren... OMIM:118450
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Intrahepatic cholestasis, Jaundice, Reduced number of intrah... OMIM:614887
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Periorbital edema, Lymphadenopathy, Paresthesia ORPHA:32960
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr... OMIM:222700
Roberts Syndrome
Cryptorchidism, Thrombocytopenia, Long penis, Sparse hair, Polycystic kidney dysplasia, Midface c... ORPHA:3103
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Short Syndrome
Diabetes mellitus, Weight loss ORPHA:3163
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Supernumerary nipple, Cryptorchidism, Gray matter heterotopia, Overgrowth... ORPHA:453504
Opitz-Kaveggia Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Fine hair, Gray matter heterotopia, Frontal upsweep o... OMIM:305450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Supernumerary nipple, Cryptorchidism, Gray matter heterotopia, Overgrowth... ORPHA:352665
Ogden Syndrome
Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Sparse eyebrow, Cryptorchidism, Jaund... OMIM:300855
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Hashimoto thyro... ORPHA:331235
Crimean-Congo Hemorrhagic Fever
Leukopenia, Increased circulating IgG level, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardi... ORPHA:99827
Granulomatosis With Polyangiitis
Periorbital edema, Prostatitis, Weight loss, Granulomatosis, Hemiplegia, Abnormality of the hypot... ORPHA:900
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Patent ductus arteriosus, Hydrocephalus, Abnormality of the kidney ORPHA:1860
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Coccidioidomycosis
Abnormal sperm morphology, Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abnormal... ORPHA:228123
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Hamartoma of tongue OMIM:617563
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Hypogonadism, Spasticity ORPHA:163746
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elevated circula... ORPHA:94089
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Aplasia of the sweat glands, Failure to thrive, Hepatomegaly OMIM:612132
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Cockayne Syndrome
Hepatomegaly, Somatic sensory dysfunction, Diabetes mellitus, Ataxia, Cachexia, Action tremor, Sp... ORPHA:191
Primary Fanconi Renotubular Syndrome
Dehydration, Weight loss ORPHA:3337
Rheumatoid Arthritis
Joint swelling, Weight loss OMIM:180300
C Syndrome
Multicystic kidney dysplasia, Failure to thrive in infancy, Abnormal hair pattern, Midline facial... ORPHA:1308
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Long eyelashes, Broad lateral eyebrow, Obesity OMIM:608624
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl... ORPHA:77293
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Uterus ... ORPHA:93271
Nocardiosis
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Abnormality o... ORPHA:31204
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated h... OMIM:619991
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Poor coordination, Ascites, Failure to thrive OMIM:610965
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Facial palsy, Lymphadenopathy ORPHA:2483
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car... ORPHA:157794
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Pachygyria, Cerebellar hypoplasia, Decreased body weight ORPHA:255138
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Hepatic steatosis ORPHA:412
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Cap Polyposis
Weight loss ORPHA:160148
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Patent ductus arteriosus, C... OMIM:268300
Malignant Atrophic Papulosis
Pain insensitivity, Pleural effusion, Peritonitis, Weight loss ORPHA:679
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Hamartoma of tongue, Periventricular heterotopia, Bilateral cryptorchid... ORPHA:434179
Autosomal Recessive Robinow Syndrome
Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Long... ORPHA:1507
Stevens-Johnson Syndrome
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia ORPHA:36426
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi... ORPHA:904
Polyarteritis Nodosa
Weight loss ORPHA:767
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Hermansky-Pudlak Syndrome
Menometrorrhagia, Weight loss, Basal cell carcinoma, Squamous cell carcinoma of the skin, Neutrop... ORPHA:79430
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Hydrocephalus, Polycystic kidney dysplasia OMIM:617866
Tetrasomy 12P
Cachexia ORPHA:884
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Prem... ORPHA:363618
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Pilomatrixoma, Patent ductus art... ORPHA:353281
Nk-Cell Enteropathy
Increased T cell count, Lymphoproliferative disorder, Edema ORPHA:263665
Toxic Epidermal Necrolysis
Weight loss, Anemia, Neutropenia, Abnormal vagina morphology, Pancreatitis, Thrombocytopenia ORPHA:537
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss, Edema, Exocrine pancreatic insufficiency ORPHA:309031
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Optic atrophy, Chiari type I malformation, Long eyela... OMIM:618476
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration ORPHA:192
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Small for gestat... OMIM:107480
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Periventri... OMIM:606170
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Ganglioneuroblastoma, Central diabetes ins... ORPHA:293987
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Decreased fertility, Weight loss, Gonadal calcification, Peripheral edema, Testicul... ORPHA:60025
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Chiari type I malfor... ORPHA:261537
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Spasticity ORPHA:220295
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Pu... ORPHA:821
Fraser Syndrome
Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Abn... ORPHA:2052
Proximal Renal Tubular Acidosis
Failure to thrive, Dehydration ORPHA:47159
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelash... OMIM:263700
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Mowat-Wilson Syndrome
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Vesicoureteral reflu... ORPHA:2152
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... ORPHA:293173
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Scarring alopecia of scalp, Splenomegaly, Loss o... ORPHA:79277
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build OMIM:603041
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Overgro... DECIPHER:81
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Periventricular heterotopia ORPHA:98892
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Renal hypoplasia/aplasia, Abnormality of neuronal migration, Abnormal localiz... ORPHA:3186
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Chiari type I malfor... ORPHA:261552
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... OMIM:619774
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Horseshoe kidney, Hamarto... OMIM:617088
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Gray matter ... OMIM:615219
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Trisomy 18
Cachexia, Cryptorchidism, Hypertonia, Abnormal morphology of female internal genitalia, Oligohydr... ORPHA:3380
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Increased circulating androgen concentration, Bladder diverticulum, Premature ... ORPHA:2976
Blau Syndrome
Clear cell renal cell carcinoma, Facial palsy, Splenomegaly, Stage 5 chronic kidney disease, Lymp... ORPHA:90340
Immunodeficiency 55
Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... OMIM:607944
Femoral-Facial Syndrome
Renal agenesis, Maternal diabetes, Abnormal renal collecting system morphology, Cryptorchidism, H... OMIM:134780
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Fryns-Smeets-Thiry Syndrome
Disproportionate tall stature, Cachexia ORPHA:2058
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Hypospadias, Premature ovarian insufficiency, Small for gestational age, Impai... OMIM:176690
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Polyhydramnios, Congenital hypothyroidism, Hydrocele testis... OMIM:620186
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Multicystic kidney dysplasia, Facial palsy, Patent ductus arteriosus, Hydrocep... OMIM:300373
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Hypospadias, Multicystic kidney dysplasia, Unilatera... OMIM:308205
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Schwartz-Jampel Syndrome
Cachexia, Polyhydramnios, Blepharospasm, Odontogenic neoplasm, Hypertonia, Gait disturbance, Decr... ORPHA:800
Juvenile Polyposis Of Infancy
Refractory anemia, Subcutaneous lipoma, Cachexia, Hamartomatous polyposis, Hemangioblastoma, Frec... ORPHA:79076
Postinfectious Vasculitis
Viral hepatitis, Increased circulating IgA level, Orchitis, Weight loss, Increased circulating an... ORPHA:48435
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Johanson-Blizzard Syndrome
Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Septate vagina, Urethrov... OMIM:243800
Adenocarcinoma Of The Anal Canal
Anal canal adenocarcinoma, Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung... ORPHA:424016
Alg11-Cdg
Gray matter heterotopia, Failure to thrive ORPHA:280071
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Periventricular heterotopia OMIM:618870
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Involuntary movements, Abnormality of the endocri... ORPHA:438213
Pmm2-Cdg
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Hypogonadotropic hypogonadism, Proteinur... ORPHA:79318
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Sparse axillary hair, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopen... OMIM:256040
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o... OMIM:617099
Truncus Arteriosus
Cardiomegaly, Hypoplasia of the thymus, Right ventricular hypertrophy, Adrenocortical abnormality... ORPHA:3384
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Holoprosencephaly 14
Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P... OMIM:619895
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leu... ORPHA:536
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Pedal edema, Peripheral edema, ... ORPHA:75565
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Cerebrocostomandibular Syndrome
Patent ductus arteriosus, Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Oculopharyngodistal Myopathy 1
Tremor, Ataxia, Difficulty walking, Weight loss OMIM:164310
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly ORPHA:1393
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Macular edema, Weight loss, Increased circulating IgG level, Normochromic anem... ORPHA:91500
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Small scrotum, Sparse eyelashes, Hypospadias, Supernumerary nipple, ... OMIM:601803
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia ORPHA:1969
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Chronic Graft Versus Host Disease
Pancytopenia, Phimosis, Xerostomia, Abnormal vagina morphology, Weight loss, Pleural effusion, As... ORPHA:99921
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Juvenile Dermatomyositis
Palpebral edema, Weight loss ORPHA:93672
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Hydrocephalus, Lymphadenopathy, Optic ne... ORPHA:667
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Failure... OMIM:617718
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Norrie Disease
Diabetes mellitus, Clonus, Cachexia, Cryptorchidism, Hypertonia, Uterine rupture, Erectile dysfun... ORPHA:649
Congenital Tricuspid Stenosis
Carcinoid tumor ORPHA:95459
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Polyhydramnios, Weight loss ORPHA:2020
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Weight loss, Shuffling gait, Hypoplastic male extern... ORPHA:740
Reactive Arthritis
Joint swelling, Weight loss ORPHA:29207
Periventricular Nodular Heterotopia 9
Synophrys, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Hirsutism OMIM:618918
Leptospirosis
Hepatomegaly, Papilledema, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Acute ki... ORPHA:509
Seckel Syndrome
Cachexia ORPHA:808
Marfan Syndrome
Disproportionate tall stature, Slender build, Cachexia ORPHA:558
Stickler Syndrome
Hemiplegia/hemiparesis, Disproportionate tall stature, Slender build, Cachexia ORPHA:828
Goodpasture Syndrome
Anemia, Weight loss OMIM:233450
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent duc... OMIM:164210

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 Cdkn2c

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 Cdkn2c.

No publications found that use IMPC mice or data for Cdkn2c.

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
Cdkn2ctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdkn2ctm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdkn2ctm46372(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cdkn2ctm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cdkn2ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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