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Gene: Mark2 MGI:99638

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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:
MAP/microtubule affinity regulating kinase 2
Synonyms:
Emk,  Par-1

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 Mark2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Mark2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Gastric Cancer
Increased level of L-fucose in urine, Stomach cancer OMIM:613659
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... ORPHA:95619
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Failure to thri... OMIM:619858
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... OMIM:619350
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased C... OMIM:607271
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Short stature, Decreased response to growth hormone stimulation test, Reduced circula... OMIM:612781
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... OMIM:613496
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Isolated Growth Hormone Deficiency, Type Iv
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... OMIM:618157
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... OMIM:300400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube... OMIM:612079
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ... OMIM:617006
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Impaired T... OMIM:240500
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... ORPHA:453533
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,... OMIM:607594
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Abnormal urinary color ORPHA:90035
Ziegler-Huang Syndrome
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... OMIM:620501
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... OMIM:614131
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Failure to thrive, Eczematoid dermatitis, Increased circulat... OMIM:304790
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Impotence, Aplasia/hypoplasia of the uterus, Ab... ORPHA:2232
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Hypopituitarism, Recurrent otitis media, Increased circulati... ORPHA:98813
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Recurrent urinary tract infec... OMIM:612783
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoglycemic seizures, Large for gestational age, Hyp... ORPHA:293964
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Pos... OMIM:620210
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypopituitarism, Dec... ORPHA:90695
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... OMIM:613038
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Acut... ORPHA:125
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Cellulitis, Atopic dermatitis, Decreased circulating IgG level, Recurrent upper respiratory tract... OMIM:618944
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Decreased body weight, Rectal prolapse ORPHA:209964
Transient Neonatal Diabetes Mellitus
Macroglossia, Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to... ORPHA:99886
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Neoplasm of the ... ORPHA:2869
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... OMIM:173100
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypogonadism, Hypopituitarism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... OMIM:619644
Short Stature Due To Ghsr Deficiency
Vomiting, Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insuli... ORPHA:314811
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... OMIM:611881
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Type I diabetes mellitus, Abnormal T cell count, ... OMIM:620430
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
Oliver-Mcfarlane Syndrome
Severe short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypo... OMIM:275400
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:600995
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch... ORPHA:470
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Dysfunctional alter... ORPHA:90038
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... OMIM:221750
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypog... ORPHA:300373
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Lipoatrophy, Insulin resistance, Increased adipose tissue around the... ORPHA:280365
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... OMIM:603909
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Abno... ORPHA:1830
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... OMIM:613502
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Joubert Syndrome 26
Recurrent upper respiratory tract infections, Central hypothyroidism, Decreased response to growt... OMIM:616784
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Pituitary Dwarfism With Large Sella Turcica
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Pituitary dw... OMIM:262710
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Selective Igm Deficiency
Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... ORPHA:331235
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gastric polyp... OMIM:174900
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... OMIM:613779
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl... OMIM:102700
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:67046
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Increased circulating prolactin concentration, Decreased circulating T4 concentrati... ORPHA:99832
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating IgG level, Recurrent upper respirat... OMIM:618459
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothyroidi... ORPHA:3363
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating I... OMIM:615513
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Attention... OMIM:300310
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz... OMIM:300908
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... OMIM:194380
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... ORPHA:449395
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Decreased ci... OMIM:619510
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Intrauterine... OMIM:300869
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... ORPHA:397596
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury ORPHA:2134
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ... OMIM:300123
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepat... ORPHA:331206
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Proteinuria,... OMIM:613913
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Reduced circulating complement concentration,... ORPHA:79237
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Cryptorchidism, Hypoplasia of penis, Ante... ORPHA:2022
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt... ORPHA:859
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... ORPHA:84090
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Irregular menstruation, Hepatic steatosis, Lipodystrophy, Hypertrigl... OMIM:615238
Mody
Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva... ORPHA:552
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Leprechaunism
Postnatal growth retardation, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased bo... ORPHA:508
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circ... ORPHA:79087
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Vomiting, Diarrhea, Failure to thrive, Hypoglycemia, Hyperinsulinemia,... OMIM:606528
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... ORPHA:314802
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology ORPHA:839
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Elevated circulating hepatic trans... ORPHA:400
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... OMIM:610725
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhe... OMIM:614069
Lowe-Kohn-Cohen Syndrome
Nephropathy, Anorectal anomaly, Anal atresia ORPHA:2408
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Immunodeficiency 48
Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Panhypopituitarism, X-Linked
Panhypopituitarism, Pituitary dwarfism OMIM:312000
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Growth delay, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Increased circulating IgG level, Hepatosplenomegaly, Thromb... OMIM:209950
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Pulmonary lymphangiectasia, Ectopic kidney, Rectal prolapse, Erysi... OMIM:235510
Alg12-Cdg
Recurrent hypoglycemia, Abnormal circulating IgG level, Recurrent pharyngitis, Hypospadias, Parti... ORPHA:79324
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesi... ORPHA:54595
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Cardiomegaly, Perim... OMIM:620135
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperinsulin... ORPHA:324575
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Hepatic steatosis, Hepatomegaly, Nephrotic syndrome, Premature ovarian insufficiency, V... OMIM:212065
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Weight loss, Hypoproteinemia, Ascites, Pleural effusion, Hypoca... ORPHA:90362
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Myoglobinuria, Cir... ORPHA:264580
Hellp Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Vomiting, Microangi... ORPHA:244242
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Increased circulating IgE level, Increased circulating IgA lev... OMIM:620565
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... ORPHA:71526
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... ORPHA:91347
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Weight loss, Abnormality of the kidney, Nephrotic syndrome, Gastroint... ORPHA:91139
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Growth... OMIM:614034
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Papa Syndrome
Type I diabetes mellitus, Crohn's disease, Proteinuria, Increased inflammatory response, Myositis... ORPHA:69126
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ... OMIM:243700
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Enamel hy... ORPHA:2643
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infe... OMIM:615577
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Short stature, Anterio... OMIM:182230
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:105200
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... ORPHA:99867
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Anorexia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619386
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... OMIM:613101
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... ORPHA:251992
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE... OMIM:606367
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steatosis, Renal tubular at... OMIM:617303
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Lymphopenia, Lymph node hypoplasia, Recurrent lower respir... OMIM:613179
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D... OMIM:612782
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... OMIM:619048
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Ly... OMIM:615401
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ... OMIM:608776
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Immunodeficiency 23
Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, I... OMIM:615816
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Intrauterine growth retard... OMIM:301006
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Decreased circulating ... OMIM:619752
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Recurrent lower re... OMIM:615139
Preeclampsia
Chronic kidney disease, Type I diabetes mellitus, Abnormality of the hepatic vasculature, Elevate... ORPHA:275555
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Reduced antra... OMIM:618723
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Recurrent pneumonia, Multiple bladder diverticula, Gastroesop... OMIM:613177
Immunodeficiency 44
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... OMIM:616636
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Ce... OMIM:615952
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectovaginal fistula, Decreased lym... ORPHA:35078
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta... OMIM:620632
Non-Acquired Isolated Growth Hormone Deficiency
Microphallus, Delayed puberty, Abdominal obesity, Short stature, Growth delay, Anterior hypopitui... ORPHA:631
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Bronchiectasis, Exocrine pan... OMIM:219700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology... ORPHA:85450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Small for gestational age OMIM:215250
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis m... OMIM:619381
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro... OMIM:618048
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse... OMIM:256300
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating a... OMIM:620376
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:261534
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Recurrent bronchitis... OMIM:216950
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Episodic h... ORPHA:276580
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Failur... OMIM:617872
Cog2-Cdg
Small pituitary gland ORPHA:435934
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Short st... ORPHA:3157
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormal heart morphology ORPHA:502430
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, Po... OMIM:210900
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro... ORPHA:2495
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Diarrhea, Recurrent upper respiratory... OMIM:615758
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:614376
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esoph... OMIM:147060
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... OMIM:620651
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur... ORPHA:100
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased lymphocyte p... ORPHA:169160
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Episodic h... ORPHA:276575
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy... ORPHA:289390
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Hepatospleno... ORPHA:99931
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ... ORPHA:540
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Hyperins... ORPHA:263455
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:254516
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolit... OMIM:614878
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Recurrent hypoglycemia, Postnatal growth retardation, Dysmenorrhea, Increased body weig... ORPHA:79240
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Abnormality of the lower urinary tract ORPHA:101009
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... ORPHA:353298
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... ORPHA:231144
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Pulmonary hem... ORPHA:79124
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa... OMIM:308230
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat... OMIM:614420
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Fg Syndrome Type 1
Small pituitary gland, Slender build, Cryptorchidism, Mitral valve prolapse, Atrial septal defect... ORPHA:93932
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Pelvic mass, Recurrent hypoglycemia, Hypophosphatemic rickets, N... ORPHA:2126
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test, Short stature ORPHA:1261
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... OMIM:618349
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria OMIM:261100
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Recurrent respiratory infections, ... ORPHA:33355
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Growth delay, Decreased response to growth h... OMIM:618347
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bladder polyp, Abnormality of the ureter, Multip... OMIM:175200
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Episodic hyperhidrosis, Recurrent hy... ORPHA:276556
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Potocki-Lupski Syndrome
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Abnor... OMIM:610883
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Anhidrosis, Proteinuria, Polyphagia, Delayed puberty,... ORPHA:251004
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Failure to thrive in infancy, Decreased proportion of CD8-positive T cells... OMIM:617241
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse OMIM:619793
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Ethanolaminosis
Cardiomegaly OMIM:227150
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... ORPHA:293978
Kennedy Disease
Testicular atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Decreased body weight, Achalasia, Hyperkalemia, Hypospadias, H... OMIM:617053
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Aganglionic ... ORPHA:261222
Legionnaires Disease
Cellulitis, Diarrhea, Lymphopenia, Abnormal pleura morphology, Hematuria, Recurrent pharyngitis, ... ORPHA:549
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest... ORPHA:90363
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Reduced natural killer cell count, Diarrhea, Gastroesophageal reflux, ... ORPHA:221139
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Membranoproliferative glomerulonephritis OMIM:613652
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Pleural effusion, Metrorrhagia, Abnormal endomet... ORPHA:314478
Seckel Syndrome 7
Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea... OMIM:614851
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth ... ORPHA:163693
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Bacterial Toxic-Shock Syndrome
Cellulitis, Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elev... ORPHA:36234
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function, 3-Methylglutaconic aciduria, Thrombocy... ORPHA:67048
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Elevated circulating hepatic transaminase c... OMIM:620005
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG... OMIM:226990
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Hyperphosphatemia, Decreased body weight, Hematuria, Pulmonary ... ORPHA:340
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Maternal Uniparental Disomy Of Chromosome 1
Type I diabetes mellitus, Gastroesophageal reflux, Growth delay, Failure to thrive, Panhypogammag... ORPHA:251009
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Chronic constipation, Proteinuria, Motor stereotypy, Glomerular sclerosis, Glomerul... OMIM:619428
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, IgA... OMIM:618348
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Abnormality of the gastrointestinal tract, Lymphadenopathy, Anorexia ORPHA:52416
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Failure to thrive, Hypoglycemia OMIM:610090
Riddle Syndrome
Enuresis nocturna, Pneumonia, Recurrent pneumonia, Diarrhea, Decreased circulating IgG level, Bro... ORPHA:420741
Pediatric Systemic Lupus Erythematosus
Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Dark urine, Hematuria, Decreased circul... ORPHA:93552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decrease... OMIM:618495
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail... OMIM:615767
Dubowitz Syndrome
Anal stenosis, Eczematoid dermatitis, Postnatal growth retardation, Intrauterine growth retardati... ORPHA:235
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology OMIM:123550
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Methylmalonic aciduria, Failure to thrive, P... OMIM:275350
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Increased circulating ferritin concentration,... OMIM:620603
Isolated Agammaglobulinemia
Pneumonia, Cellulitis, Diarrhea, Failure to thrive, Recurrent respiratory infections, Abnormal ly... ORPHA:229717
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, A... ORPHA:100025
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Anorexia, Abnormal blood ion... ORPHA:810
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Vomiting, Polydipsia, Failure to thrive, Po... ORPHA:213
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2668
Hemochromatosis, Type 1
Impotence, Cardiomyopathy, Azoospermia, Pleural effusion, Splenomegaly, Cardiomegaly, Hypogonadot... OMIM:235200
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent ... OMIM:618986
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Combined Malonic And Methylmalonic Acidemia
Vomiting, Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Failur... ORPHA:289504
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt... OMIM:619774
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
X-Linked Agammaglobulinemia
Cellulitis, Weight loss, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media... ORPHA:47
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Diarrhea, Hypocholesterolemia, Postnatal growth retardation, Abnormal e... ORPHA:96180
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Ab... OMIM:613501
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro... OMIM:300845
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Proteinuria, Anemia, Nephrotic syndrome, Short stature ORPHA:1192
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight... OMIM:619487
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Cryptorchidism, Dextrocardia, Short stature, Anterior hypopituitarism ORPHA:2863
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Failure to thrive, Severe short stature, L... OMIM:245590
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Propionic Acidemia
Hyperglycinuria, Vomiting, Failure to thrive, Increased level of hippuric acid in urine, Eczemato... OMIM:606054
Nephrotic Syndrome, Type 8
Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei... OMIM:615244
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Branchial anomaly, In... ORPHA:1296
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Diarrhea, Vomiting... OMIM:230400
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotran... OMIM:245400
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splen... ORPHA:77297
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Bronchiectasis, Hypoglycemia, Aspiration pneumonia, Intrauterine growth retardation,... OMIM:618253
Fanconi-Bickel Syndrome
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... ORPHA:2088
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Williams-Beuren Syndrome
Recurrent otitis media, Obsessive-compulsive trait, Chronic constipation, Celiac disease, Rectal ... OMIM:194050
Cystic Fibrosis
Elevated circulating hepatic transaminase concentration, Decreased body mass index, Failure to th... ORPHA:586
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album... ORPHA:90291
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Hyp... ORPHA:79239
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Xanthelasma, Hepatic steatosis, Tub... ORPHA:79259
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Failure to thrive, Enterocolitis, Nephrotic syndrome, Mild pr... OMIM:301108
Adult-Onset Still Disease
Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, L... ORPHA:829
Williams Syndrome
Type II diabetes mellitus, Overfriendliness, Chronic otitis media, Rectal prolapse, Precocious pu... ORPHA:904
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine... OMIM:614732
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Decreased body weight, Hyperhidrosis, Short stature, ... ORPHA:231140
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Failure to thrive, Methylmalonic aciduria, Hypoglycemia, Leukopenia, Stage 5 ... OMIM:251000
Glycogen Storage Disease Ixb
Diarrhea, Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen con... OMIM:261750
Al Amyloidosis
Xerostomia, Increased circulating antibody level, Weight loss, Abnormality of the kidney, Hepatom... ORPHA:85443
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Failure to thrive in infancy, Hypocholesterolemia, Elbow fle... OMIM:618156
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, High palate OMIM:613506
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, H... ORPHA:478
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... OMIM:614380
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly, Pyloric stenosis ORPHA:664
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Recurrent otitis media, Ankyloglossia, Hepatic steatosis, Elevated circulating... OMIM:619525
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... OMIM:601457
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Growth delay, Lymp... OMIM:616005
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... ORPHA:1772
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Membranoproliferative glomerulonephritis OMIM:305800
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG, Recurrent ... OMIM:613495
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Pancytopenia, Cirrhosis, Hepatomegaly, Esophage... OMIM:614576
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Decreased circulating IgA l... OMIM:617744
Zygomycosis
Cellulitis, Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Ga... ORPHA:73263
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... OMIM:203800
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urina... ORPHA:169105
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, High palate... ORPHA:79330
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Diarrhea, Decreased circulating carnitine concentrat... ORPHA:71212
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Atrophic scars OMIM:182410
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Art... OMIM:616414
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Short stature, Gonadal dysgenesis OMIM:233400
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Hepatic steatosis, Hepatomegaly, Jau... OMIM:251880
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrom... ORPHA:834
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hyp... ORPHA:699
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormality of complement system, Insulin-resistant diabetes mellitus, Abnorm... ORPHA:79086
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Weight loss, Retrograde ejaculation, An... ORPHA:49041
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Bilateral cryp... OMIM:613457
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Intraut... OMIM:618958
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... ORPHA:95496
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myelo... ORPHA:158057
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Laron Syndrome
Severe short stature, Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Truncal ... ORPHA:633
Fanconi-Bickel Syndrome
Hypouricemia, Postnatal growth retardation, Hyperbilirubinemia, Reduced subcutaneous adipose tiss... OMIM:227810
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cleft so... OMIM:301068
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... OMIM:232200
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Reactive hypog... OMIM:600955
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... OMIM:256550
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly, Increase... ORPHA:37748
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa... OMIM:308940
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Hepatome... OMIM:615688
Galactosemia Iii
Aminoaciduria, Galactosuria, Vomiting, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, H... OMIM:230350
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hyper... OMIM:613385
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce... ORPHA:439232
Addison Disease
Diarrhea, Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Renal salt wasting, P... ORPHA:85138
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ... OMIM:615122
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff... ORPHA:91138
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Megarectum, Elevated circulating hepatic transaminase concentration... OMIM:301056
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Long penis, Cholestasis, Hyperg... OMIM:246200
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Pleuritis, Lupus nephritis, Thrombocytopenia, Arthritis, Hemol... OMIM:152700
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Hepatome... OMIM:219800
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level, Hemophago... OMIM:301078
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Lead Poisoning
Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increas... ORPHA:330015
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Disproportionate short-limb short stature, Elevat... OMIM:609441
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Elev... OMIM:619750
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr... OMIM:256040
Amed Syndrome, Digenic
Short stature, Hypoplasia of the uterus, Adrenal hypoplasia, Failure to thrive OMIM:619151
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul... ORPHA:280679
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 54
Failure to thrive, Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retar... OMIM:609981
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:508533
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Ascites, Reduced circulating complement concentration, Emphysema, Renal insufficiency, ... ORPHA:36412
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular... OMIM:601859
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrine pancreatic in... OMIM:619004
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal amyloidosis, Renal insufficiency OMIM:134610
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive ... OMIM:301000
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... ORPHA:96179
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, P... OMIM:606407
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Abnormality of complement system, Splenomegaly, Hepatic steatosis... ORPHA:2348
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Retrograde ejaculation OMIM:223360
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... ORPHA:300536
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Cardi... ORPHA:465508
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Acute Adrenal Insufficiency
Diarrhea, Weight loss, Anorexia, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primar... ORPHA:95409
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren... OMIM:208900
Microphthalmia, Syndromic 3
Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogon... OMIM:206900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, S... ORPHA:73272
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur... ORPHA:1501
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Chilblains, Splenomegaly, Increased circulating Interferon-alpha... OMIM:615010
Imerslund-Grasbeck Syndrome 2
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections OMIM:618882
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:99330
Omenn Syndrome
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia,... ORPHA:39041
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Failure to thrive, Decreased circulating carnitine concentration, Dicarboxyli... OMIM:212140
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Intrauterine growth retardation, Hyperhidrosis, Small for gestational age, Cleft pa... ORPHA:231147
Lymphatic Filariasis
Urethral obstruction, Abnormal lung morphology, Lymphadenitis, Hypereosinophilia, Abnormality of ... ORPHA:2035
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Myotonic Dystrophy 2
Decreased circulating IgG level, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, ... OMIM:602668
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ... OMIM:613845
Acromelic Frontonasal Dysplasia
Hypopituitarism, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:1827
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Cednik Syndrome
Hypogonadism, Nephrotic syndrome, Short stature, Proteinuria ORPHA:66631
Thrombotic Thrombocytopenic Purpura
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency ORPHA:54057
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Anti-Glomerular Basement Membrane Disease
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency ORPHA:375
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Late-Onset Isolated Acth Deficiency
Diarrhea, Weight loss, Anorexia, Hypoparathyroidism, Premature ovarian insufficiency, Celiac dise... ORPHA:199299
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hyperammonemia, Constipation, Hepatomegaly ORPHA:35
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytope... ORPHA:572
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis OMIM:261650
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Failure to thri... OMIM:618108
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Obesity ORPHA:88643
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatic steatosis, Cirrhosis, Primary amenorrhea, Hepatomegaly, High palate, Neonatal hypoglycemi... OMIM:619418
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulatin... ORPHA:6
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh... OMIM:616050
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Diarrhea, Cervical lymphadenopathy, Leuk... ORPHA:83313
Immunodeficiency 31C
Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Weight loss, H... OMIM:614162
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:617950
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Coproporphyria, Hereditary
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Elev... OMIM:121300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increa... ORPHA:247598
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia, Renal insufficiency, Euthyroid goiter ORPHA:3327
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Weight loss, Anorexia, Hepat... ORPHA:781
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Radiation Proctitis
Hematochezia, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abnormal gastro... ORPHA:70475
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth retardation, Agammaglobul... OMIM:616910
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased s... OMIM:619046
Aredyld Syndrome
Type I diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the ureter, Intrauter... ORPHA:1133
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concen... OMIM:608836
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Vomiting, Glycosuria, Elevate... OMIM:231680
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Cellulitis, Bronchiolitis, Periodontitis, Recurrent ... OMIM:266265
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Dubowitz Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,... OMIM:223370
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, High, narrow palate, Nephrocalcinosis, Gastroesophageal reflux, Abnormality o... ORPHA:369837
Celiac Disease, Susceptibility To, 1
Diarrhea, Postnatal growth retardation, Weight loss, Celiac disease, Stomatitis, Eczematoid derma... OMIM:212750
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia, Umbilical hernia, Decreased circulating IgA level, Large for gestationa... OMIM:616638
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Splenomeg... ORPHA:79083
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, I... OMIM:614470
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Hypoglycemia, Small placenta, Postnatal growth retardation, Intrauterine growth ret... ORPHA:397590
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Failure to thrive, Stage 5 chronic ... ORPHA:1018
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Hepa... OMIM:608594
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated cir... ORPHA:94086
Autosomal Agammaglobulinemia
Cellulitis, Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Hig... ORPHA:33110
Autoimmune Polyendocrinopathy Type 4
Rheumatoid arthritis, Xerostomia, Iridocyclitis, Tubulointerstitial nephritis, Celiac disease, Au... ORPHA:227990
Immunodeficiency 46
Failure to thrive, Conjunctivitis, Decreased circulating antibody level, Recurrent sinopulmonary ... OMIM:616740
Immunodeficiency 58
Allergic rhinitis, Esophagitis, Dysphagia, Recurrent cutaneous abscess formation, Chronic otitis ... OMIM:618131
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Intrauterine growth retardation, Dorsocervical fat pad, Decreased body weight, Prop... ORPHA:391408
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Failure to th... ORPHA:1572
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... OMIM:616834
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Diarrhea, Failure to thrive, Increased circulating prolactin concentrati... ORPHA:35708
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Polypha... OMIM:614962
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Severe short-limb dwarfism, Cryptorchidism... ORPHA:1263
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Alström Syndrome
Chronic kidney disease, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsuline... ORPHA:64
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneous adipose tiss... OMIM:269700
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Severe short stature, Agenesis of pulmonary vessels, Tetralogy of Fallot... OMIM:601186
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Rhizomelia, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Knee f... OMIM:618162
Gitelman Syndrome
Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Urinary i... ORPHA:358
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu... OMIM:610984
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive, Oral leukoplakia, De... OMIM:620040
Felty Syndrome
Cellulitis, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic oti... ORPHA:47612
Tenorio Syndrome
Macroglossia, Recurrent pneumonia, Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stom... OMIM:616260
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Abnormal heart morphology, External genita... ORPHA:177907
Beta-Ketothiolase Deficiency
Diarrhea, Ketonuria, Vomiting, Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyperam... ORPHA:134
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, E... ORPHA:26791
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Dilatation of the ventricular cavity, Postn... ORPHA:2177
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia... ORPHA:227982
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Failure to thrive in infancy, Leukocytosis, Chronic diarrhea, Skin rash, Increased prop... OMIM:617099
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... ORPHA:445038
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Pulmonary fibro... ORPHA:457240
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Growth delay, Failure to thrive, Decreased liver function, Hypoglycemia,... OMIM:608779
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibody level, Hematuria,... ORPHA:77259
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Systemic Lupus Erythematosus
Discoid lupus rash, Decreased circulating complement C3 concentration, Leukopenia, Malar rash, He... ORPHA:536
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Decreased circulating prealbumin concentration, Weight loss,... ORPHA:930
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Failure to t... OMIM:614480
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Micropenis, Short stature, Anterior hypopituitarism, Pulmonary hypoplasia OMIM:241800
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Aplasia of the thymus, Chronic otitis media, Decreased lymphocyte proliferation in resp... ORPHA:83471
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Recurrent bronchiolitis, Lympha... OMIM:619164
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... ORPHA:480536
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami... OMIM:170100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Failure to thr... ORPHA:83617
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Rectal atresia, Anal atresia OMIM:613390
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Ascites, Intrauterine growth retardation, Pleural effusion, Hype... OMIM:614702
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent respiratory infections, Increased circulating IgE level, ... ORPHA:217390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated ci... OMIM:618120
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Hyperkalemia, Pleural empyema, Intestinal perforation, Abnormal circulating chemokine c... ORPHA:544482
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Micropenis, Small pituitary gland, Hypospadias, Disproportionate short-limb short stature OMIM:619479
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, L... ORPHA:499009
Diarrhea 13
Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Secretory dia... OMIM:620357
Hsd10 Disease, Infantile Type
Hypoglycemia, Hyperammonemia, Abnormality of the lower urinary tract, Cardiomegaly, Gastrointesti... ORPHA:391428
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat... OMIM:232240
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru... ORPHA:39812
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... OMIM:618116
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Impotence, Cardiomyopathy ORPHA:85447
Xq28 (MECP2) duplication
Gastroesophageal reflux, Functional abnormality of the bladder, Failure to thrive, Decreased circ... DECIPHER:45
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... OMIM:242860
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Hepatic steatosis, Cirrhosis, Hepatomegaly, Duplicated collecting system,... OMIM:270400
Chylomicron Retention Disease
Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Hypotriglyceridemia, Hypocholesterolemia,... OMIM:246700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Hypogonadotropic hypogonadism, Finger joint contra... ORPHA:48431
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... OMIM:193670
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Weig... OMIM:615846
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... ORPHA:70593
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Penile freckling, Spleno... OMIM:605309
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Macroglossia, Conj... ORPHA:505248
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Adrenal calcification, Hepatosplenome... OMIM:278000
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve... ORPHA:99826
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Abnormality of the ureter, Intrauterine gr... OMIM:180860
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Diarrhea, Vomiting, Hypoglycemia, Hyperammonemia, P... OMIM:620137
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Dica... OMIM:201475
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir... ORPHA:444463
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Hsd10 Mitochondrial Disease
Hypoglycemia, Aggressive behavior, Elevated circulating tiglylglycine concentration, Abnormal mit... OMIM:300438
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Hypogon... ORPHA:289494
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co... OMIM:619355
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Reduced subcutaneous adipose tissue, Abnormal renal ... OMIM:137940
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ... OMIM:261680
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia OMIM:614739
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Anal fissure, Lymphopenia, Hepatosplenomegaly, Abscess, Nephrotic syndrome, Granul... OMIM:618935
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski... OMIM:603552
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Syndromic Diarrhea
Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Panhy... ORPHA:84064
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr... OMIM:266150
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Failure to thrive, Chronic mucocu... OMIM:209920
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Vomiting, Decreased circulating carnitine conce... ORPHA:79159
Trichohepatoenteric Syndrome 1
Cholestasis, Large placenta, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosuria, Villou... OMIM:222470
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Methylmalonic Aciduria, Cblb Type
Vomiting, Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcar... OMIM:251110
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Aspiration pneumonia, Abnormal glucose homeostasis, Elevated c... ORPHA:90117
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hypothyroidis... OMIM:618005
Macrophage Activation Syndrome
Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat... ORPHA:158061
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Leigh Syndrome
3-Methylglutaconic aciduria, Neutropenia, Nephrotic syndrome, Dysphagia, Generalized aminoaciduri... ORPHA:506
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Abnormality of the kidne... ORPHA:228123
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Reduced subcutaneous adipose tissue, High palate, Precocious... ORPHA:769
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Vomiting, Growth delay, Intestinal lymphangiectasia, Ascites, Intestin... OMIM:226300
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Postnatal growth retardation, Hyperhidrosis, Short stature, Small for gestational age ORPHA:231137
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hepatic failure, Pancytopenia, Elevated circulating creatine ... OMIM:607426
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Abnormality of the kidney... ORPHA:168569
Infantile Sialic Acid Storage Disease
Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nep... OMIM:269920
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Diarrhea, Ketonuria, Organic aciduria, Increased le... OMIM:246450
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Cleft palate, Microglossia, Aspiration pneumonia ORPHA:141152
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Decreased testicular size, Postnatal growth retardatio... OMIM:610198
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Vomiting, Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia, Chro... OMIM:248360
15Q24 Microdeletion Syndrome
Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test, Abnormal ... ORPHA:94065
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Abnormal circulating selenium concentration, IgA deposition in the glomer... ORPHA:79408
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin... ORPHA:79096
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism ORPHA:280195
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Failure to thrive, Breast hypoplasia, Intrauterine growth retardation, Cry... ORPHA:464306
Bone Marrow Failure Syndrome 5
Hypogonadism, Short stature, Testicular atrophy, Pulmonary fibrosis, Growth delay OMIM:618165
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Microlissencephaly
Pneumonia ORPHA:1083
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis, Anorexia, Hepatomegaly ORPHA:86893
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th... OMIM:210200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Hypoketotic h... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Recurrent pharyngitis, Hyperhidro... ORPHA:108
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Renal i... ORPHA:183
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutr... ORPHA:79312
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Melas
Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Proximal tubulopathy, ... ORPHA:550
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Anorexia, H... ORPHA:99827
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... OMIM:617780
Gaucher Disease
Pancytopenia, Increased circulating antibody level, Hematuria, Cirrhosis, Polyclonal elevation of... ORPHA:355
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Functional abnor... ORPHA:29073
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Vomiting, Decreased cir... OMIM:201450
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Delayed p... OMIM:615866
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Recurrent hypoglycemia, Intrauterine growth retardation, Hypothyroidism, Delaye... OMIM:616817
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Vomiting, Failure to thrive, Decreased liver function, Glycosuria, Hyperphosphatur... ORPHA:436271
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Diarrhea, Vomiting, Hypoglycemia, Elevated c... ORPHA:230
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Renal hypoplasia, Gastroesophageal reflux, Failure to thrive, Eczematoid dermatitis, Recurrent ur... OMIM:617157
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Weight loss,... ORPHA:90060
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Diarrhea, Fluctuating splenomegaly, Fail... OMIM:610377
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren... ORPHA:368
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder, Small for gestational ag... OMIM:300076
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Short stature, Failure to thrive OMIM:615286
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Abetalipoproteinemia
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem... ORPHA:14
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Decreased response t... OMIM:610978
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Renal tub... ORPHA:156
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... OMIM:609529
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit... OMIM:617388
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Addictive alcohol use, Increased circulati... ORPHA:36238
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification, Pleural effusion ORPHA:314473
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Chordee, Anterior pituitary h... OMIM:151050
Alpha-Mannosidosis
Narrow palate, Type II diabetes mellitus, Splenomegaly, Inguinal hernia, Arthritis, Hepatomegaly,... ORPHA:61
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepa... OMIM:618963
Osteootohepatoenteric Syndrome
Failure to thrive, Increased intestinal transit time, Villous atrophy, Grade II vesicoureteral re... OMIM:619377
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... ORPHA:157794
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Diarrhea, G... ORPHA:71
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent urinary tract infections, Decreased respons... OMIM:307200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level, Intestinal polyp, Hyperactivity, Neon... ORPHA:457485
Muckle-Wells Syndrome
Nephropathy, Renal amyloidosis, Conjunctivitis, Camptodactyly of finger, Recurrent aphthous stoma... ORPHA:575
D-Glyceric Aciduria
Aminoaciduria, Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Tongue thrusting, Microp... OMIM:220120
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Vomiting, Increased level of hippur... OMIM:248600
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Pneumonia, Hepatic failure, Increased circulating cortisol level, Prot... ORPHA:97287
Congenital Rubella Syndrome
Type I diabetes mellitus, Intrauterine growth retardation, Splenomegaly, Skin rash, Abnormality o... ORPHA:290
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Diarrhea, Dicarboxylic acidur... OMIM:255120
14Q22Q23 Microdeletion Syndrome
Small scrotum, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Short stature, ... ORPHA:264200
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperglycemia, Anorexia, Hepatomegaly, Lacticaciduria, Elevated plas... ORPHA:3008
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Uveitis, Pleuritis, Spleno... ORPHA:3452
Williams-Beuren Region Duplication Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Short s... OMIM:609757
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Cockayne Syndrome Type 1
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to ... ORPHA:90321
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di... ORPHA:20
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... ORPHA:860
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... OMIM:137920
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Cocaine Intoxication
Acute kidney injury, Vomiting, Diffuse alveolar hemorrhage, Gastrointestinal infarctions, Elevate... ORPHA:90068
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Exercise-induced myoglobinuria ORPHA:352479
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Gastroesop... ORPHA:17
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Decreased liver function, Glycosuria, Hyperphosphaturia, Renal ... OMIM:220110
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... OMIM:616576
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Donnai-Barrow Syndrome
Intestinal malrotation, Proteinuria ORPHA:2143
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Decreased response to growth hormone stimulation t... OMIM:220210
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Anemia,... ORPHA:77261
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub... OMIM:613658
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, N... ORPHA:247691
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Wild Type Attr Amyloidosis
Nephropathy, Abnormal pulmonary interstitial morphology, Intermittent diarrhea, Renal insufficien... ORPHA:330001
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Pancyto... ORPHA:90045
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Whim Syndrome
Pneumonia, Cellulitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphad... ORPHA:51636
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Diarrhea, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosi... OMIM:256810
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th... OMIM:158330
Malakoplakia
Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Hematuria, Proteinuria, N... ORPHA:556
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Elevated circulating hepatic transaminase concentration, Ketonuria, Failure to thrive, ... OMIM:615453
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Slender build, Abnormal left v... ORPHA:466791
Holoprosencephaly
Abnormality of the spleen, Congenital diaphragmatic hernia, Encephalocele, Aplasia/Hypoplasia of ... ORPHA:2162
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Hyperhidrosis... ORPHA:391
Beckwith-Wiedemann Syndrome
Nephropathy, Large placenta, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neona... ORPHA:116
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz... OMIM:242700
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Isolated Complex I Deficiency
Vomiting, Proximal tubulopathy, Failure to thrive, Hypoglycemia, Intrauterine growth retardation,... ORPHA:2609
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Severe short stature, Bilateral cryptorchidism, Decreased response to growth hormone stimulation ... OMIM:618336
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hepatosplenomegaly, Hypothyroidism, Short stature, Abnormal pulmonary interstiti... OMIM:619013
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Ch... ORPHA:534
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pul... OMIM:619991
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Perineal fistula, Renal hyp... ORPHA:2538
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... ORPHA:139402
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... ORPHA:66634
Familial Mediterranean Fever
Nephropathy, Diarrhea, Acute hepatic failure, Intestinal obstruction, Nephrotic syndrome, Erysipe... ORPHA:342
Omenn Syndrome
Pneumonia, Severe B lymphocytopenia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the... OMIM:603554
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Diarrhea, Elevated circulating hepatic transaminase concentration, V... ORPHA:348
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Spina bifida, Short stature, Nep... OMIM:161200
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Insulin resistance, Gastroesophageal reflux, Abnormalit... ORPHA:813
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... OMIM:616651
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit... OMIM:615207
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Elevated circulating cre... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Elevated circulating cre... OMIM:618839
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Primary Biliary Cholangitis
Xanthelasma, Cirrhosis, Increased circulating IgA level, Hepatomegaly, Jaundice, Celiac disease, ... ORPHA:186
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Abnormal circulatin... ORPHA:90794
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... ORPHA:275
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, Insulin resistance, Gastroesophageal reflux, Vomiting, ... ORPHA:96182
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Pituitary adenoma, Increased circulating prolactin concentration, Hypopi... OMIM:300942
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote... ORPHA:488627
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Short stature, Recurrent respiratory infections ORPHA:364
Glutaric Acidemia I
Glutaric aciduria, Ketonuria, Failure to thrive, Elevated circulating glutaric acid concentration... OMIM:231670
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk... OMIM:615934
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A... OMIM:248250
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocyto... OMIM:603585
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem... OMIM:152800
Fusariosis
Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Granu... ORPHA:228119
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increase... OMIM:618523
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test, Short stature OMIM:616224
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Recurrent aphth... OMIM:615468
Trichothiodystrophy 5, Nonphotosensitive
Decreased testicular size, Intrauterine growth retardation, Panhypopituitarism, Micropenis, Short... OMIM:300953
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Intrauterine growth retardation, Elevated circulating creatine kinase concentration... OMIM:618838
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Tafro Syndrome
Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Renal insufficien... ORPHA:457077
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, ... ORPHA:75234
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Failure to thrive, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine c... ORPHA:79282
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Bilateral cryptorchidism, Decreased response to growth hormone stimulation tes... ORPHA:485405
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Rhizomelia, Leukopenia, Intrauterine growth retardation, Hepatic steatosis, ... OMIM:616271
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa... ORPHA:189427
Timothy Syndrome
Pneumonia, Bronchitis, Hypoglycemia, Hypocalcemia, Cardiomegaly, Hypothyroidism OMIM:601005
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P... ORPHA:411634
African Trypanosomiasis
Abnormality of the menstrual cycle, Hepatosplenomegaly, Abnormality of circulating cortisol level... ORPHA:3385
Pediatric-Onset Graves Disease
Diarrhea, Polyphagia, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves dise... ORPHA:525731
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... ORPHA:79301
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia, Micropenis, Neonatal death OMIM:618810
Granulomatosis With Polyangiitis
Intestinal obstruction, Hematuria, Prostatitis, Weight loss, Inflammatory abnormality of the eye,... ORPHA:900
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Hypoplasia of p... OMIM:601427
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Gastroesophageal reflux, Recurrent hypoglycemia OMIM:618158
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism ORPHA:181
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Vomiting, Failure to thrive, Renal insufficiency, Hypothyroidism, Hyperalaninemia, Hypochromic mi... OMIM:619147
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pleural effusion, Ventricular septa... OMIM:616897
Harderoporphyria
Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Vomiting, Increased circulating fe... OMIM:618892
Triple A Syndrome
Short stature, Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxylic aciduria, Hep... OMIM:212138
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Reduced natural killer cell activity, Hepatom... OMIM:603553
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia OMIM:254120
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Congenital Toxoplasmosis
Failure to thrive in infancy, Hepatomegaly, Intrauterine growth retardation, Cardiomegaly ORPHA:858
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Recurrent otitis media, Hepat... OMIM:301066
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Increased circulating IgE level, Congenital diaphragmatic hernia, H... ORPHA:373
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Oculoskeletodental Syndrome
Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Splenomegaly, Hypocalcemia... OMIM:618440
Cockayne Syndrome
Absence of pubertal development, Postnatal growth retardation, Reduced subcutaneous adipose tissu... ORPHA:191
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Abnormal rectum morphology, Aganglionic megacolon, Abnormal renal morphol... OMIM:239300
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Vomiting, Failure to thrive, Dicarboxylic aciduria, Attention deficit hyperactivi... OMIM:620646
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele... OMIM:618419
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin... ORPHA:3162
Xfe Progeroid Syndrome
Hypoalbuminemia, Severe short stature, Elevated circulating hepatic transaminase concentration, F... OMIM:610965
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hypoplastic left heart, Failure to thrive, Decreased response to growth ho... OMIM:619503
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Pleural effusion, Ovarian cyst, Enlarged polycystic ovaries, Pulmonary ... ORPHA:64739
Rigid Spine Syndrome
Pneumonia, Hamstring contractures, Elbow flexion contracture, Hip contracture ORPHA:97244
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Peptic ulcer, Decreased circulating antibody leve... OMIM:604928
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Pleuritis, Abnormal renal morp... ORPHA:449280
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc... OMIM:256500
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Intrauterine growth retardation, Aggressive behavior, Thrombocytopenia, Severe temp... OMIM:617710
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti... OMIM:601495
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Failure to thrive, Microphallus, Decrea... OMIM:603467
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Vici Syndrome
Lymphopenia, Postnatal growth retardation, Decreased proportion of CD4-positive helper T cells, N... OMIM:242840
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy... OMIM:616084
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi... ORPHA:75563
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Elevated urinary norepinephrine l... ORPHA:29072
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Reduced circulating growth hormone concent... OMIM:602152
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr... OMIM:101800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Vomiting, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increa... ORPHA:90790
Hennekam Syndrome
Chylothorax, Erysipelas, Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Ascites, Decreas... ORPHA:2136
Wolman Disease
Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Cachexia, A... ORPHA:75233
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Neon... OMIM:620300
Cockayne Syndrome A
Irregular menstruation, Atypical scarring of skin, Failure to thrive, Hypogonadism, Intrauterine ... OMIM:216400
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Micropenis, Primary a... OMIM:176270
Glycerol Kinase Deficiency
Vomiting, Growth delay, Increased urinary glycerol, Hypoglycemia, Adrenal insufficiency, Adrenoco... OMIM:307030
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... OMIM:615190
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Thyroid adenoma, Diarrhea, Pituitary adenoma, Increased circulating cortisol level,... OMIM:131100
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Vomiting, Ketonuria, Organic aciduria, Failure to thrive, Decreased circulating ... OMIM:210210
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce... OMIM:613070
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Cellulitis, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous ... ORPHA:486
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Weight loss, Anorexia, Tubulointerstitial nephri... ORPHA:91500
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Skin rash, Hydr... ORPHA:634
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Vomiting, Growth delay, Failure to thrive, Hypoglycemia, Splenomegaly, 3-hydroxy... OMIM:252010
Listeriosis
Diarrhea, Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis... ORPHA:533
Ciliary Dyskinesia, Primary, 29
Atelectasis, Infertility, Recurrent respiratory infections, Decreased circulating antibody level,... OMIM:615872
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Aspiration pneumonia, Intrauterine growth retardation, Growth delay, Small ... OMIM:619057
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Niemann-Pick Disease, Type A
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspa... OMIM:257200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi... OMIM:241410
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess OMIM:620534
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Recurrent upper respiratory tract infections, Protein-losing enter... OMIM:618183
Hyper-Igd Syndrome
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Ele... OMIM:260920
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Failure to thrive, Hypoglycemia, Intrauterine growth retardation,... OMIM:619055
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Abnormality of the pulmonary ... ORPHA:33001
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Ventricular septal defect, Pulmonary artery stenosis, Abnormalit... ORPHA:75389
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... ORPHA:447877
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Cystathioninemia, Failure to thrive, ... OMIM:277400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Decreased response to growth hormone sti... ORPHA:1855
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Renal agenesis, Intestinal malrotation, Horseshoe k... OMIM:115470
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Mitral valve... OMIM:151100
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating... OMIM:615962
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism, Flexion contracture, Transient hypogammaglobulinemia of infancy OMIM:251240
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxy... OMIM:611126
Hypermobile Ehlers-Danlos Syndrome
Menometrorrhagia, High, narrow palate, Atypical scarring of skin, Gastroesophageal reflux, Pelvic... ORPHA:285
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Tetralogy of Fallot, Ventricular septal de... OMIM:618624
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Immunodeficiency 7
Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ... OMIM:615387
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr... OMIM:617049
Ring Chromosome 21 Syndrome
Azoospermia, Decreased circulating antibody level, Amenorrhea, Short stature, Infertility, Diabet... ORPHA:1445
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf... OMIM:612541
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu... OMIM:229600
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus, Short stature OMIM:617914
Classical Ehlers-Danlos Syndrome
Vomiting, Gastroesophageal reflux, Cigarette-paper scars, Umbilical hernia, Atrophic scars, Ingui... ORPHA:287
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Spl... OMIM:239200
Glucocorticoid Deficiency 2
Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abno... OMIM:607398
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia ORPHA:563612
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Impaired T cell function, Decreased serum testosterone concentration... OMIM:201100
Wolfram Syndrome 1
Growth delay, Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes me... OMIM:222300
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive, Intrauterine growth retardation, Stage 5 chronic kidney disea... OMIM:617729
Nijmegen Breakage Syndrome
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Premature ovarian insufficiency, Anal atr... OMIM:251260
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Hyperuri... OMIM:162000
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Sepsis In Premature Infants
Oliguria, Diarrhea, Vomiting, Decreased liver function, Increased circulating interleukin 6 conce... ORPHA:90051
Mucopolysaccharidosis, Type Ii
Severe short stature, Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Umbilical her... OMIM:309900
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Renal insufficiency, Proteinuria, High palate, Cleft palate ORPHA:1307
Mulibrey Nanism
Growth delay, Intrauterine growth retardation, Cardiomegaly, Pericardial constriction, Hepatomega... OMIM:253250
Caroli Disease
Cholestasis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Weight loss,... ORPHA:53035
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Gene... OMIM:619127
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:620609
Zika Virus Disease
Myelitis, Vomiting, Intrauterine growth retardation, Skin rash, Infectious encephalitis, Arthriti... ORPHA:448237
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test, Short stature OMIM:216100
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231214
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm... ORPHA:178320
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, High palate, Ectopic kidney, Hypospadias, Self-injurious behavio... OMIM:122470
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula ORPHA:3016
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Melioidosis
Pneumonia, Cellulitis, Brain abscess, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis... ORPHA:31202
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Fail... OMIM:124000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hype... OMIM:600649
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Hypoglycemia, Thyroid carcinoma, Intestinal polyposis, Hashi... ORPHA:109
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Hypogonadism, Obesity, Stage 5 chronic kidney di... OMIM:616629
Perlman Syndrome
Distal ileal atresia, Visceromegaly, Renal hamartoma, Hypoglycemia, Nephrogenic rest, Ascites, Ne... OMIM:267000
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... ORPHA:47159
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Hyperbilirubinemia, Aggressive behavior, Attention defic... OMIM:619075
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Hypobetalipoproteinemia, Familial, 1
Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi... OMIM:615558
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Sotos Syndrome
High, narrow palate, Narrow palate, Gastroesophageal reflux, Glucose intolerance, Otitis media, I... OMIM:117550
Isolated Biliary Atresia
Cholestasis, Hypopituitarism, Xanthelasma, Severe failure to thrive, Cirrhosis, Hepatomegaly, Jau... ORPHA:30391
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Elbow flexion contracture, Contracture of the ... ORPHA:2614
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Pulm... OMIM:233450
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Cowden Syndrome 1
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Lymphopenia, Furrowed tongue, ... OMIM:158350
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233710
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Intrauterine growth ret... ORPHA:363528
Double Outlet Left Ventricle
Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery sten... ORPHA:3427
Lassa Fever
Menometrorrhagia, Diarrhea, Oliguria, Conjunctivitis, Jaundice, Increased circulating IgM level, ... ORPHA:99824
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ... OMIM:612714
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Macroglossia, Failure to thrive, High palate, Protruding tong... OMIM:214100
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Pancreatic hypopla... ORPHA:99885
Fabry Disease
Diarrhea, Lipiduria, Vomiting, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Hy... OMIM:301500
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233690
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circula... OMIM:301110
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Diarrhea, Monoclonal immunoglobulin M proteinemia... ORPHA:33226
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granul... OMIM:306400
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Congenital pulmonary airway malformation, Hepatitis... ORPHA:436252
Cockayne Syndrome B
Severe short stature, Atypical scarring of skin, Failure to thrive, Postnatal growth retardation,... OMIM:133540
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Hyperglycemia, ... ORPHA:79474
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Increased circulating antibody level, Weight l... OMIM:181000
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Failure to thrive, In... ORPHA:90674
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Gm1 Gangliosidosis
Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Camptodactyly of finger, Hepato... ORPHA:354
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent res... OMIM:137100
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Diarrhea, Umbilical hernia, Heparan sulfate excreti... OMIM:252900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... ORPHA:2688
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Aspiration pneumonia, Myoglobinuria, Urinary incontinence, Hyperkalemia, Dysph... ORPHA:94093
Galloway-Mowat Syndrome
Hiatus hernia, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Microscopic hematuria ORPHA:71273
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Hernia, Mucopolysa... ORPHA:583
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Generalized aminoaciduria, Elevated circulating hepati... ORPHA:404454
Avian Influenza
Pneumonia, Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concen... ORPHA:454836
Meckel Syndrome 12
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus OMIM:616258
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Diarrhea, Heparan sulfate excretion in urine, Splen... OMIM:252930
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Weight loss, Mu... ORPHA:723
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Skin rash, Attention deficit hyperactivity disorder, Hype... OMIM:617600
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Recurrent sinu... OMIM:615482
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Protruding tongue, Neutrophilia, Hepatomegaly, Abnorma... ORPHA:99843
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatrem... ORPHA:199296
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, L... ORPHA:96191
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulati... ORPHA:99889
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Fa... ORPHA:289157
Cholera
Acute kidney injury, Diarrhea, Vomiting, Hypoglycemia, Aspiration pneumonia, Abnormal blood ion c... ORPHA:173
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Hyperhidrosis OMIM:613576
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,... OMIM:309801
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Dys... ORPHA:3109
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Severe postnatal growth retardation, Scarring alopecia of scalp, Erythroderma, Hi... ORPHA:35173
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Gastroesophageal reflux, Dilatation of the renal pelvis, Volvulus, H... OMIM:301111
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Intrauterine growth retardation, Hypothyroidism, Ambiguo... ORPHA:280200
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Polydipsia, Growth delay, Stage 5 chronic kidney disease, Occ... OMIM:243910
Nijmegen Breakage Syndrome-Like Disorder
Short stature, Decreased circulating antibody level, Growth delay OMIM:613078
Dyskeratosis Congenita
Periodontitis, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Esophageal stenosis,... ORPHA:1775
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Joint contracture of the hand, Intrauterine ... OMIM:251300
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... OMIM:251900
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Alpha-Mannosidosis, Adult Form
Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Macro... ORPHA:309288
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Hemolytic anemia, ... ORPHA:809
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Splenomegaly, Inguinal hernia, Hepatomegaly, Vacuolated lymphocytes, Decreased circ... OMIM:248500
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... OMIM:216360
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Diarrhea, Heparan sulfate excretion in urine, Splen... OMIM:252920
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Hypocalcification of dental enamel, Splenomegaly, Amelogenesis imperfecta, Lymphadenop... ORPHA:169090
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Chronic diarrhea, Hypoglycemia, Pyloric stenosis OMIM:616355
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased circulating carnitine concentration, Organic aciduria, Failure to thrive, Aspiration pn... ORPHA:431361
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Emphysema, Renal insufficiency, Hyperlipid... ORPHA:324
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Intrauterine growth retardation, Abnormal medullary pyramid morphology, ... ORPHA:79243
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit... ORPHA:64743
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:251290
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia OMIM:608688
Icf Syndrome
Recurrent respiratory infections, Umbilical hernia, Lymphopenia, Protruding tongue, Anemia, Macro... ORPHA:2268
Agel Amyloidosis
Xerostomia, Stage 5 chronic kidney disease, Respiratory tract infection, Proteinuria, Abnormal sp... ORPHA:85448
Severe Acute Respiratory Syndrome
Acute kidney injury, Diabetes mellitus, Acute infectious pneumonia ORPHA:140896
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... OMIM:607944
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Weight loss, Erythema nodosum, Hepato... ORPHA:797
Coffin-Lowry Syndrome
Narrow palate, Inguinal hernia, Uterine prolapse, Decreased body weight, Short stature, High pala... OMIM:303600
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... ORPHA:79329
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Gastrointestinal hemorrhage OMIM:192315
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hepatomegaly, Cardiomegaly OMIM:619064
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Increased urinary glycerol OMIM:229700
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Cog8-Cdg
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Failure to t... ORPHA:95428
Infantile Liver Failure Syndrome 2
Vomiting, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic fa... OMIM:616483
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinu... ORPHA:411629
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Diarrhea, Vomiting, Renal insufficiency, Reactive hypogl... ORPHA:469
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Igg4-Related Submandibular Gland Disease
Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating ... ORPHA:449432
Shashi-Pena Syndrome
Unilateral renal agenesis, Intrauterine growth retardation, Hypoglycemia OMIM:617190
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... ORPHA:98897
Chilton-Okur-Chung Neurodevelopmental Syndrome
Intrauterine growth retardation, Cryptorchidism, Patent foramen ovale, Chordee, Short stature, An... OMIM:619841
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Diarrhea, Failure to thrive, Atelectasis, Hepatocellular necrosi... OMIM:618278
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Attention deficit hyperactivity disorder, Gastroesophageal reflux... OMIM:619971
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... OMIM:601847
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Short stature ORPHA:436174
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Ciliary Dyskinesia, Primary, 9
Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron... OMIM:612444
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Urinary glycosaminoglycan excretion, Hepatomegaly, Dysphagia, Chronic otiti... ORPHA:581
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Abdominal obesity, Le... OMIM:209900
Kabuki Syndrome 2
Horseshoe kidney, Recurrent otitis media, Intrauterine growth retardation, Postnatal growth retar... OMIM:300867
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria ORPHA:57
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Hypogonadism, Elbow flexion contracture, ... ORPHA:3132
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Increased circulating IgG4 level, Abnormality of ... ORPHA:79078
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Pulmonary hemorrhage, Hepatomegaly, Hypolysinemia, Aminoaciduria, Hyp... OMIM:222700
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Failure to thrive in infancy, Decreased re... OMIM:601808
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Keloids, Unilateral renal atrophy, Pyelonephritis, Oligozoospermia, Renal dysplasia OMIM:314300
Hurler-Scheie Syndrome
Growth delay, Camptodactyly of finger, Umbilical hernia, Heparan sulfate excretion in urine, Cont... OMIM:607015
Meier-Gorlin Syndrome 6
Severe short stature, Failure to thrive, Decreased response to growth hormone stimulation test, E... OMIM:616835
Alg9-Cdg
Rhizomelia, Right ventricular dilatation, Abnormal lung lobation, Abnormal heart morphology, Vent... ORPHA:79328
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Abnormal lung lobation, Decreased response to growth hormone stimulation test, Intrau... OMIM:614114
Basilicata-Akhtar Syndrome
Precocious puberty, Gastroesophageal reflux, Chronic constipation, Camptodactyly, Neonatal hypogl... OMIM:301032
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Failure to thrive, Eczematoid dermatitis, Abnormality of co... ORPHA:79128
Hypoadrenocorticism, Familial
Vomiting, Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Degcags Syndrome
Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,... OMIM:619488
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome, Abnormal renal physiology OMIM:274150
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect OMIM:619170
Rift Valley Fever
Melena, Elevated circulating hepatic transaminase concentration, Hepatitis, Increased circulating... ORPHA:319251
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Hypogonadism, Absence of subcutaneous fat, Intestinal obstructio... OMIM:601675
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth r... OMIM:620275
Digeorge Syndrome
Acne, Recurrent otitis media, Hepatic steatosis, High palate, Renal dysplasia, High, narrow palat... OMIM:188400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Delayed puberty, Failure to thrive, Growth delay OMIM:600462
Nocardiosis
Cellulitis, Lymphadenitis, Scleritis, Weight loss, Anorexia, Endocarditis, Cutaneous abscess, Ost... ORPHA:31204
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Patent fo... OMIM:609053
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Intrahepatic... OMIM:211600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Anal atre... OMIM:617425
Cohen Syndrome
Decreased response to growth hormone stimulation test, Mitral valve prolapse, Childhood-onset tru... OMIM:216550
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Diarrhea, Elevated circulating hepatic transaminase concentration, Vomiting,... ORPHA:542323
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu... OMIM:619693
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Renal tubular acidosis, Ureter... ORPHA:1493
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor... OMIM:612387
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct prol... OMIM:208540
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... OMIM:619767
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Hypoglycemia, Submucous cleft hard palate, Contracture of the proximal ... ORPHA:457279
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Left ventricular hypertrophy, Hypo... OMIM:617713
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Abnormal aortic valve morphology, Ventricu... OMIM:615280
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level, Hypoproteinemia ORPHA:1116
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypog... ORPHA:110
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, ... OMIM:235255
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Intestinal malrotation, Hypocholesterolemia, Constipation, Short stature, High... OMIM:244450
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Postnatal growth retardation, Short stature, Small for gestational age OMIM:613320
Rett Syndrome
Growth delay, Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Hyperammonemia, ... ORPHA:778
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Decrea... OMIM:615607
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Intrauterine growth retardation, Abnormal tricuspid valve annulus morp... ORPHA:555874
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Martin-Probst Syndrome
Umbilical hernia, Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Hypothyroidism, Microp... OMIM:300519
Kawasaki Disease
Diarrhea, Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Jaundice,... ORPHA:2331
Lipodystrophy, Familial Partial, Type 7
Diarrhea, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Dysp... OMIM:606721
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E... OMIM:618052
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Gastropares... OMIM:616368
Fucosidosis
Macroglossia, Oligosacchariduria, Failure to thrive, Recurrent respiratory infections, Splenomega... OMIM:230000
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... ORPHA:98849
Cold Agglutinin Disease
Diarrhea, Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenome... ORPHA:1655
Fucosidosis
Failure to thrive, Cardiomegaly, Hypothyroidism, Hyperhidrosis, Hepatomegaly ORPHA:349
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Angiostrongyliasis
Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, Constipation, Increased... ORPHA:74
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula, Cleft palate ORPHA:2728
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosamin... ORPHA:79255
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... OMIM:615234
Meige Disease
Cellulitis, Atypical scarring of skin, Absence of lymph node germinal center, Lymph node hypoplas... ORPHA:90186
Riddle Syndrome
Short stature, Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Hyp... OMIM:618922
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Growth delay, Failure to thrive, 3-Methylglutaconic aciduria, Neonatal... OMIM:617248
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepati... ORPHA:746
Donnai-Barrow Syndrome
Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ... ORPHA:31150
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Acute Liver Failure
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatitis... ORPHA:90062
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Atelectasis, Recurrent otitis media, An... ORPHA:244
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy OMIM:619051
Mucopolysaccharidosis, Type Vi
Pneumonia, Cervical myelopathy, Recurrent upper respiratory tract infections, Umbilical hernia, S... OMIM:253200
Ohdo Syndrome
Proteinuria OMIM:249620
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Central hypoth... OMIM:620305
Cartilage-Hair Hypoplasia
Rhizomelia, Spinal dysraphism, Disproportionate short-limb short stature, Failure to thrive, Hypo... ORPHA:175
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:616007
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Congenital diaphragmatic hernia ORPHA:99811
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymu... OMIM:617022
Wagro Syndrome
Proteinuria, Obesity, Nephroblastoma OMIM:612469
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Male infertility, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... OMIM:244400
Plasminogen Deficiency, Type I
Nephritis, Recurrent upper respiratory tract infections, Periodontitis, Nephrolithiasis, Decrease... OMIM:217090
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... ORPHA:3243
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens... OMIM:608233
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Intrauterine growth retardation, Hypoplasia of the ovary, Abdominal ob... OMIM:619321
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia ORPHA:2590
Pallister-Hall Syndrome
Precocious puberty, Growth delay, Abnormal lung lobation, Decreased response to growth hormone st... OMIM:146510
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... ORPHA:562639
Nephronophthisis 18
Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c... OMIM:615862
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, ... OMIM:249100
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Peripheral pulmonary artery stenosis, Urethral... ORPHA:90349
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Proteinuria,... OMIM:619471
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Anal atresia, Polycystic kidney dysplasia, Hypospadias, Chronic otitis media,... ORPHA:567
Feingold Syndrome Type 1
Nephritis, Duodenal atresia, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Jejuna... ORPHA:391641
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Reduced circulating alpha-1-antitrypsin concentration, Hepat... ORPHA:60
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Growth delay OMIM:617784
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Attention deficit hyperactivity disorder, Dysphagia, Aspiration pneumonia ORPHA:52368
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Peters Plus Syndrome
Hypoplastic left heart, Rhizomelia, Disproportionate short-limb short stature, Postnatal growth r... ORPHA:709
Yellow Nail Syndrome
Nephropathy, Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic ve... ORPHA:662
Slc35A1-Cdg
Pneumonia, Cellulitis, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombo... ORPHA:238459
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:94089
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Short stature, Anterior hypopituitarism OMIM:147250
Menkes Disease
Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilica... ORPHA:565
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Microphthalmia, Syndromic 1
High, narrow palate, Pyloric stenosis, Renal hypoplasia, Joint contracture of the hand, Hydrouret... OMIM:309800
Truncus Arteriosus
Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobation, Abnormal heart mor... ORPHA:3384
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Vomiting, Ketonuria, Failure to thrive, Hypoglycemia, Anteriorly placed anus, Hyperglycemia, Hype... OMIM:220111
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis, Hepatomegaly, Autoimmune throm... ORPHA:77293
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Anterior pituitary hypoplasi... OMIM:619534
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Cantu Syndrome
Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti... OMIM:239850
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Combined Oxidative Phosphorylation Deficiency 58
Vomiting, Hypoglycemia, Hyperprolinemia, Hyperalaninemia, Lacticaciduria OMIM:620451
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Increased connective tissue, Severe postnatal growth... ORPHA:98905
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Meckel diverticulum, Horseshoe kidney, Hepatosplenomegaly, Decrea... OMIM:274000
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, In... ORPHA:51
Somatomammotropinoma
Impotence, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin c... ORPHA:314769
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:86818
Pmm2-Cdg
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Impaired n... ORPHA:79318
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Intrauterine growth retardation, Pneumothorax, Maternal diabetes ORPHA:70588
Tick-Borne Encephalitis
Myelitis, Elevated circulating hepatic transaminase concentration, Vomiting, Increased circulatin... ORPHA:297
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Failure to thrive, Atelectasis, Hilar lymph node enlargement, ... OMIM:620233
Histiocytoid Cardiomyopathy
Vomiting, Failure to thrive, Hypoglycemia, Cardiomegaly, Renal cyst, Pulmonary edema, Hepatomegal... ORPHA:137675
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Impulsivit... OMIM:620423
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Dentinogenesis imperfecta, Pe... OMIM:619269
Yellow Fever
Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransfera... ORPHA:99829
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Autoimmune hemolytic anemia, Splenomegaly, Myositis, Lymphadenopathy, ... OMIM:619183
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Cry... OMIM:300967
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Smooth tongue, Atrophic scars, Recurrent skin infections, Sca... ORPHA:79396
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Vomiting, Diar... OMIM:610768
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Diarrhea, Intestinal obstruction, Recurrent pharyngitis, Elevated circulating C-react... ORPHA:32960
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:69665
Nodular Non-Suppurative Panniculitis
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-rea... ORPHA:85414
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro... ORPHA:167
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Japanese Encephalitis
Vomiting, Diarrhea, Anorexia, Elbow flexion contracture, Infectious encephalitis, Hyponatremia, I... ORPHA:79139
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... OMIM:278300
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, High palate ORPHA:596
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Vomiting, Failure to thrive, Camptodactyly of finger, Short stature, Hig... ORPHA:2135
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Postnatal growth retardation, Proximal renal tubular acidosis, Mot... OMIM:309000
Acromegaly
Impotence, Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, H... ORPHA:963
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Exercise-induced myoglobinuria OMIM:607155
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Chronic Granulomatous Disease
Pyloric stenosis, Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly, Otitis m... ORPHA:379
Mucopolysaccharidosis Type 7
Hepatitis, Umbilical hernia, Ascites, Abnormal pleura morphology, Splenomegaly, Inguinal hernia, ... ORPHA:584
Rasmussen Subacute Encephalitis
Attention deficit hyperactivity disorder, Hyperactivity, Decreased circulating total IgA ORPHA:1929
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Growth delay, Failure to thrive, Abnormal dental... ORPHA:2556
Costello Syndrome
Failure to thrive, Hypoglycemia, Renal insufficiency, Pneumothorax, Lymphangiectasis, Achilles te... OMIM:218040
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Hypohidrosis, Hyperhidrosis, Hepatomegaly, Impotence OMIM:268800
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Vesico... OMIM:130650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypoparathyr... ORPHA:2237
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Elevat... ORPHA:50918
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Atelectasis, Cryptorchidism, Patent foramen ovale, Decreased body weight... OMIM:620371
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Obesity, Pit... ORPHA:1435
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Failure to thrive in infancy, Stage 3 chronic kidney di... OMIM:617595
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis,... ORPHA:565612
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Gastroesophageal reflux, Growth delay, Renal a... OMIM:617913
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... ORPHA:440437
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ... OMIM:301072
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Aggressive behavior, Thrombocytopenia, High palate, Neonatal hyp... ORPHA:572798
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Elevated ... OMIM:612852
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy... ORPHA:464329
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Trichothiodystrophy
High, narrow palate, Eczematoid dermatitis, Increased mean corpuscular hemoglobin concentration, ... ORPHA:33364
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Anteriorly placed anus, Recurrent aphthous stomatitis... ORPHA:728
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Dysphagia, Fasting hypoglycemia ORPHA:25
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Impaired platelet aggregation, Xant... OMIM:210250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Behçet Disease
Weight loss, Anorexia, Endocarditis, Gastrointestinal hemorrhage, Renal insufficiency, Pleural ef... ORPHA:117
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Alopecia Antibody Deficiency
Short stature, Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Hypogonadism, Obes... OMIM:614231
Gaucher Disease, Type Ii
Gastroesophageal reflux, Bronchiolitis, Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia... OMIM:230900
Congenital Disorder Of Glycosylation, Type Iib
Elevated circulating aspartate aminotransferase concentration, Decreased circulating IgA level, H... OMIM:606056
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia, Hyperhidrosis, Aspiration pneumonia ORPHA:79264
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Failure to thrive, Umbilical hernia, Frequent temper tantrums, D... OMIM:617062
Orofaciodigital Syndrome Type 4
High, narrow palate, Bifid uvula, Severe short stature, Renal agenesis, Failure to thrive, Campto... ORPHA:2753
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Vomiting, Neonatal hypoglycemia, Congenital foot contractures ORPHA:565624
Oculodentodigital Dysplasia
Hypoglycemia, Umbilical hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Neuro... ORPHA:2710
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal insufficiency, Episcleritis, Ski... ORPHA:761
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micropenis, High palate, Hypoglycemia OMIM:620224
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Aspiration pneumonia, Neonatal death, Left ventricular hypertrophy, Lacticaciduria, He... OMIM:619167
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... OMIM:603903
Amyloidosis, Hereditary Systemic 1
Pulmonary edema, Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep... OMIM:620296
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur... OMIM:255125
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Keratitis, Colon cancer, Increased circulating IgE level, Increased circula... ORPHA:449563
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Mild postnatal gr... OMIM:224120
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Duplication of renal pelvis, Recurrent urinary tract infections, Pyelon... ORPHA:2036
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Roifman-Chitayat Syndrome
Pneumonia, Ectopic kidney, Arthritis, Umbilical hernia OMIM:613328
Orofaciodigital Syndrome I
Hepatic fibrosis, Myelomeningocele, Ankyloglossia, Hamartoma of tongue, Hepatic cysts, Proteinuri... OMIM:311200
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test, Short stature, Small for gestational age, ... ORPHA:2980
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas... OMIM:620367
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Monosomy 18Q
Secondary growth hormone deficiency, Growth delay, Failure to thrive, Slender build, Decreased ci... ORPHA:1600
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Vomiting, Bronchiolitis, Small b... ORPHA:90348
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Decreased response to growth hormone stimulation test, Hypothyroidism, Delayed puberty, Short sta... OMIM:619234
Alpha-Mannosidosis, Infantile Form
Pneumonia, Oligosacchariduria, Recurrent urinary tract infections, Umbilical hernia, Hepatospleno... ORPHA:309282
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia, Hematuria,... ORPHA:95455
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... ORPHA:95430
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Growth delay, Aspiration pneumonia, Horseshoe kidne... ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Hypospadias, Self-injurious behavior, Gastroesophageal reflux, Keloids, Obesity... ORPHA:353281
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Large for gestational age, Ventricular se... ORPHA:363705
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Long penis, Failure to thrive, Recurrent respiratory infections, Intrauterine growth r... OMIM:264090
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Pulmonary hypoplasia, Microcolon, Anuria, Megacystis, Ileal atr... OMIM:619351
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Porphyria, Congenital Erythropoietic
Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Conjunctivitis, Elevate... OMIM:263700
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Increased connective tissue, Increase... ORPHA:79277
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Tongue nod... ORPHA:2750
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Hematuria, Ke... OMIM:158310
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Inguinal hernia, Attention deficit hyperactivity disorder, Camptodactyly, Short stature, Abnormal... ORPHA:459061
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis OMIM:615561
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Left ventricular hypertrophy, Hypothyroidism ORPHA:90065
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Small for gestational age, Decreased response to growth hormone stimulatio... ORPHA:268261
Orofaciodigital Syndrome Viii
Short stature, Recurrent aspiration pneumonia, Cleft palate, High palate OMIM:300484
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Decreased body weight, Cardiom... OMIM:608013
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia, Umbilical hernia, Macroglossia, High palate, Small for gestational age OMIM:614501
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Failure ... ORPHA:1329
Seckel Syndrome 10
Severe short stature, Ventricular hypertrophy, Elevated circulating luteinizing hormone level, El... OMIM:617253
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Flexion contracture, Right ventricular hypertrophy, Elevated circulating creatine kina... OMIM:253700
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentration, Gastroes... ORPHA:73230
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... ORPHA:284227
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Bicuspid aortic valve,... ORPHA:99413
Mosaic Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Bicuspid aortic valve,... ORPHA:99228
Monosomy X
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Bicuspid aortic valve,... ORPHA:99226
Turner Syndrome
Postnatal growth retardation, Hyperinsulinemia, Type II diabetes mellitus, Bicuspid aortic valve,... ORPHA:881
Ogden Syndrome
Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspi... OMIM:300855
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... ORPHA:85410
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Ankle flexion contracture, Elbow flexion contracture, Hamstring contractures, Elevated circulatin... ORPHA:206549
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor 1 ORPHA:79323
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Pyelonephritis, Renal insufficiency, Mu... OMIM:181270
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Neonatal hypoglycemia, Infectious encephalitis ORPHA:447788
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Camurati-Engelmann Disease
Urinary retention, Hypogonadism, Slender build, Leukopenia, Splenomegaly, Abnormal subcutaneous f... ORPHA:1328
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... ORPHA:397715
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Constipation, Hyperactivity, Choking episodes, Flexion contracture, Impulsi... ORPHA:35069
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Inguinal hernia, Agammaglobulinemia, Aganglionic megacolon, Anemia, Recurrent respir... ORPHA:935
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Short stature, Decreased body weight, Abnormal pituitary gland ... ORPHA:314621
Johanson-Blizzard Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Anal atresia, Rectovag... OMIM:243800
Sotos Syndrome
Small cell lung carcinoma, Decreased fertility, Hip contracture, Abnormality of the kidney, Acute... ORPHA:821
Hartsfield Syndrome
Growth delay, Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus, Hypospadias OMIM:615465
Cryptococcosis
Pneumonia, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostati... ORPHA:1546
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Postnatal g... ORPHA:138
Aymé-Gripp Syndrome
Postnatal growth retardation, Inguinal hernia, Congenital diaphragmatic hernia, Proteinuria, Camp... ORPHA:1272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Flexion contracture of toe, Blepharitis, Hydroureter, Gastroesoph... ORPHA:280633
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Pancytopenia, Hematuria, Weight loss, Anorexia, Bronchiolitis obliterans, D... ORPHA:99921
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Bacterial endocarditis, Abnormality o... ORPHA:2072
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Central hypothyroidism, Failure to thrive in infancy, Abno... ORPHA:798
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Abnormality of the kidney, High palate, Motor stereotypy, Hypospadi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormality of the kidney, High palate, Motor stereotypy, Hypospadi... ORPHA:353277
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia, Chronic constipation, Reduced circulating growth hormone... OMIM:616430
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Proteinuria, Hiatus hernia OMIM:616682
Opitz Gbbb Syndrome
Abnormality of the urinary system, Umbilical hernia, Ankyloglossia, Vesicoureteral reflux, Congen... ORPHA:2745
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Li-Fraumeni Syndrome
Thyroid carcinoma, Stomach cancer, Renal neoplasm, Neoplasm of the gastrointestinal tract, Adreno... ORPHA:524
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen... ORPHA:264675
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia... OMIM:127550
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Recurrent upper respiratory tract infections, Central hypothyroidism, Incre... ORPHA:293987
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly, Eunuchoid habitus ORPHA:2463
Viss Syndrome
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Contracture of the prox... OMIM:619472
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Peters-Plus Syndrome
Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Intrauterine... OMIM:261540
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Colon cancer, Pancreatic adenocarcinoma, Neoplasm... ORPHA:144
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Slende... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Slende... ORPHA:363958
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Failure to thrive, Intrauterine growth retardation, Inguinal herni... OMIM:247200
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... ORPHA:980
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Intrauterine growth retardation, Cardiomegaly, Severe failure t... ORPHA:97297
Cirrhotic Cardiomyopathy
Pulmonary edema, Cardiomegaly, Left ventricular hypertrophy, Left atrial enlargement, Hepatomegal... ORPHA:57777
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Cryptorchid... ORPHA:488632
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Decreased response to growth hormone stimulation test, Postnatal growth ret... OMIM:213980
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hypertrophic cardiomyopathy, Respiratory tract infection, Cardiomegaly, Left v... ORPHA:308552
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati... ORPHA:95159
Von Hippel-Lindau Syndrome
Pheochromocytoma, Paraganglioma, Pulmonary capillary hemangiomatosis, Epididymal cyst, Pancreatic... OMIM:193300
Keppen-Lubinsky Syndrome
Recurrent pneumonia, Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, L... OMIM:614098
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Short stature, Growth delay ORPHA:1867
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Vomiting, Granuloma, Intrarenal abscess, Respiratory t... ORPHA:68
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Chronic kidney disea... OMIM:218330
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Recurrent otitis media, Decreased body weight, Chordee, Abnormality... ORPHA:2152
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro... OMIM:612132
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Dilated cardiomyopathy, Impotence, Decreased response to growt... ORPHA:273
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Spinal dysraphism, Splenomegaly, Nephroblastoma, Lipoma OMIM:612918
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hashimoto thyroiditis, Aplasia of the thym... OMIM:618223
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Pleural effusion, Pulmonary edema, Cardiomegaly, Macroglossia, Neonatal hypoglycemia, En... OMIM:261740
Blau Syndrome
Nephropathy, Posterior uveitis, Xerostomia, Keratitis, Camptodactyly of finger, Abnormality of th... ORPHA:90340
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Semilobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Aspiration pneumonia, Decreased response to growth hor... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Aspiration pneumonia, Decreased response to growth hor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Failure to thrive, Aspiration pneumonia, Decreased response to growth hor... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Aspiration pneumonia, Decreased response to growth hor... ORPHA:93924
Charge Syndrome
Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial... OMIM:214800
Renal Agenesis, Bilateral
Renal agenesis, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Nonketotic... ORPHA:1848
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Cryptorc... ORPHA:3472
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous v... OMIM:620642
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Recurrent otitis media, Chordee, Urinary incontinence, Motor stereo... ORPHA:261537
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... OMIM:238600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormone stimulation t... ORPHA:444077
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic... ORPHA:60025
Niemann-Pick Disease Type C
Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of... ORPHA:646
Nestor-Guillermo Progeria Syndrome
Growth delay, Failure to thrive, Short stature, Flexion contracture, Lipoatrophy, Decreased serum... OMIM:614008
Adult-Onset Autosomal Dominant Leukodystrophy
Impotence, Urinary retention, Aspiration pneumonia, Recurrent urinary tract infections, Constipat... ORPHA:99027
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Eec Syndrome
Xerostomia, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Hypo... ORPHA:1896
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Lef... OMIM:245600
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Abnormal heart morpholo... OMIM:615873
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Failure to thrive, Hypertrophic cardiomyopathy, Recurrent bronchitis, Spleno... OMIM:252500
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Sponastrime Dysplasia
Precocious puberty, Recurrent pneumonia, Rhizomelia, Disproportionate short-limb short stature, I... ORPHA:93357
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Cleft Velum
Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumonia, Recurrent otitis m... ORPHA:99772
Wiedemann-Steiner Syndrome
Rhizomelia, Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal g... ORPHA:319182
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Xerostomia, Decreased response to growth hormone stimulation test, Transverse vaginal septum, Cry... OMIM:129900
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis, Hypokalemia, Episodic vomiting, Anorexia, Nausea ORPHA:330021
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Myoglobinuria ORPHA:423
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Atypical scarring of skin, Septic arthritis, Abnormality of humoral immun... ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Aspiration pneumonia, Abnormal... ORPHA:438213
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Decreased circulating IgG level, Gastroesophageal reflux, Bifid uvula,... ORPHA:500150
Reynolds Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613471
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Recurrent otitis media, Chordee, Urinary incontinence, Motor stereo... ORPHA:261552
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Failure to thrive,... OMIM:610913
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Failure to thrive, Anteriorly placed anus, Aspirati... OMIM:602535
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ... ORPHA:454831
Frontorhiny
Hypopituitarism, Diabetes insipidus ORPHA:391474
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Distal Deletion 19P
Keloids, Umbilical hernia, Vaginal hernia, Decreased circulating antibody level, Cleft palate ORPHA:96129
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Xerostomia, Decreased response to growth hormone stimulation test, Transverse vaginal septum, Cry... OMIM:604292
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Breast hypoplasia, Intrauterine growth ret... ORPHA:506358
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Elbow flexion contracture, Gastroparesis, Multiple joint contractures, K... ORPHA:70
Microphthalmia, Syndromic 6
Small scrotum, Failure to thrive, Anterior hypopituitarism, Cryptorchidism, Hypothyroidism, Adren... OMIM:607932
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr... OMIM:614748
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Short stature ORPHA:3063
Orofaciodigital Syndrome Ix
High palate, Camptodactyly, Recurrent aspiration pneumonia, Short stature, Cleft palate OMIM:258865
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ... OMIM:603860
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Intrauterine growth retardation, Cardiomyopathy ORPHA:158687
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Congenita... OMIM:271510
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Micropenis, High palate, Neonatal hypoglycemia ORPHA:457359
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, Growth delay, Recurrent otitis media, Intestinal malrotation,... OMIM:147920
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Short stature OMIM:617809
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El... OMIM:116920
Tay-Sachs Disease
Precocious puberty, Increased serum beta-hexosaminidase, Dysphagia, Aspiration pneumonia ORPHA:845
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Fontaine Progeroid Syndrome
High, narrow palate, Gastroesophageal reflux, Failure to thrive, Anteriorly placed anus, Umbilica... OMIM:612289
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir... OMIM:610910
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Ankyloglossia, Absence of subcutaneous fat, Severe failure ... ORPHA:740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Failure to thrive, Recurrent respiratory infections, Aspiration pneumo... ORPHA:2020
Glycogen Storage Disease Ii
Pleural effusion, Splenomegaly, Cardiomegaly, Hepatomegaly, Recurrent respiratory infections OMIM:232300
Wiedemann-Rautenstrauch Syndrome
Growth delay, Failure to thrive, Increased circulating prolactin concentration, Decreased respons... ORPHA:3455
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Short stature OMIM:208000
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Atelectasis, Hypertrophic cardiomyopathy, Respiratory tract infection, Cardiom... ORPHA:365
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, High palate, Aspiration pneumonia ORPHA:314655
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:270150
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Chronic constipation, High palate, Short stature, Recurrent asp... OMIM:300472
Arboleda-Tham Syndrome
Gastroesophageal reflux, Growth delay, Recurrent respiratory infections, Recurrent urinary tract ... OMIM:616268
Sacral Defect With Anterior Meningocele
Neurogenic bladder, Urinary retention, Rectal abscess OMIM:600145
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Narrow palate, Nephrocalcinosis, Gastroesophag... ORPHA:79500
Holoprosencephaly 1
Hypoglycemia, Median cleft palate, Adrenal hypoplasia, Micropenis, Diabetes insipidus, Short stature OMIM:236100
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism OMIM:603671
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Intermediate Uveitis
Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Macular scar, Anterior uve... ORPHA:279914
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Pneumothorax ORPHA:91387
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Familial Idiopathic Dilatation Of The Right Atrium
Pleural effusion, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation,... ORPHA:1677
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti... OMIM:619482
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami OMIM:610828
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Hypospadias OMIM:180500
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Pleural effusion, Decreased body weight, Cardi... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Failure to thrive in infancy, Pancreatic calcific... ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Yunis-Varon Syndrome
Growth delay, Aspiration pneumonia, Failure to thrive in infancy, Intrauterine growth retardation... OMIM:216340
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501

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 Mark2

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 Mark2.

No publications found that use IMPC mice or data for Mark2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mark2tm199134(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mark2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mark2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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