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Gene: Mysm1 MGI:2444584

Gene Summary

Name:

myb-like, SWIRM and MPN domains 1

Synonyms:

C530050H10Rik, C130067A03Rik

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased mean corpuscular volume	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
narrow eye opening	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.20×10^-05
abnormal retina pigmentation	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.19×10^-05
abnormal hindlimb morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.48×10^-05
decreased circulating triglyceride level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.88×10^-08
abnormal vocalization	Mysm1^{tm1a(KOMP)Wtsi}	HET	Early adult	8.62×10^-05
increased bone mineral content	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.80×10^-10
hyperactivity	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.03×10^-06
abnormal vertebrae morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.48×10^-17
decreased circulating serum albumin level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.78×10^-07
abnormal startle reflex	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.75×10^-06
decreased mature B cell number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal cranium morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.69×10^-10
abnormal urination	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.68×10^-05
decreased sacral vertebrae number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.47×10^-07
increased thermal nociceptive threshold	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.56×10^-15
decreased body weight	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.94×10^-44
decreased body length	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.59×10^-29
abnormal gait	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.02×10^-17
abnormal rib morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.42×10^-09
kinked tail	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.46×10^-17
abnormal vertebral arch morphology	Mysm1^{tm1a(KOMP)Wtsi}	HET	Early adult	1.42×10^-05
decreased leukocyte cell number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.31×10^-18
	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.46×10^-17
vertebral fusion	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.65×10^-05
abnormal coat/ hair morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.46×10^-17
decreased circulating amylase level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.12×10^-06
increased mean corpuscular volume	Mysm1^{tm1a(KOMP)Wtsi}	HET	Early adult	9.00×10^-06
abnormal gait	Mysm1^{tm1a(KOMP)Wtsi}	HET	Early adult	1.95×10^-05
thrombocytosis	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased circulating cholesterol level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.10×10^-07
abnormal coat/hair pigmentation	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.46×10^-17
increased hemoglobin content	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.14×10^-07
abnormal tail morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.46×10^-17
decreased B cell number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal pelvic girdle bone morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.23×10^-10
trunk curl	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.45×10^-08
increased circulating phosphate level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.69×10^-10
increased circulating alanine transaminase level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.36×10^-07
increased IgG2b level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.91×10^-08
decreased circulating total protein level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.50×10^-06
tremors	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.02×10^-17
abnormal autopod morphology	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.48×10^-05
decreased caudal vertebrae number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.77×10^-06
increased IgG3 level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.09×10^-05
decreased IgE level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.07×10^-10
abnormal bone mineralization	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.35×10^-07
decreased erythrocyte cell number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.84×10^-35
increased CD4-positive, alpha-beta T cell number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.64×10^-14
abnormal response to new environment	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.22×10^-05
increased circulating alkaline phosphatase level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.02×10^-26
decreased circulating triglyceride level	Mysm1^{tm1a(KOMP)Wtsi}	HET	Early adult	9.68×10^-08
abnormal body length	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.46×10^-17
increased lean body mass	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.43×10^-07
curly tail	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.46×10^-17
decreased lean body mass	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.32×10^-11
decreased hemoglobin content	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.22×10^-22
increased T cell number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased total body fat amount	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.40×10^-18
increased lactate dehydrogenase level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.60×10^-11
decreased locomotor activity	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.35×10^-09
increased mean corpuscular hemoglobin concentration	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.13×10^-37
decreased hematocrit	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.38×10^-26
increased granulocyte number	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.43×10^-22
abnormal behavior	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.13×10^-20
decreased circulating LDL cholesterol level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.76×10^-05
increased circulating chloride level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.94×10^-06
decreased circulating HDL cholesterol level	Mysm1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.90×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Mysm1^{tm1a(KOMP)Wtsi}
body, HET, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
body, HOM, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
body, HET, Female, WTSI

View all 198 images

Mysm1^{tm1a(KOMP)Wtsi}
dark foot pads, HOM, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
white spotting, absent tail, abnormal ventral coat pigmentation, HOM, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
white spotting, abnormal ventral coat pigmentation, absent tail, HOM, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
short tail, curly tail, HOM, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
white spotting, absent tail, abnormal ventral coat pigmentation, HOM, Male, WTSI

View all 10 images

Mysm1^{tm1a(KOMP)Wtsi}
tail skin, WT, Female, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
tail skin, HET, Female, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
tail skin, WT, Female, WTSI

View all 8 images

Mysm1^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
decreased primary motor cortex size, primary motor cortex, HOM, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI

View all 6 images

Mysm1^{tm1a(KOMP)Wtsi}
eye, cornea/lens fusion, corneal opacity, narrow eye opening, mydriasis, HOM, Female, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
eye, corneal opacity, cornea/lens fusion, HOM, Female, WTSI

Mysm1^{tm1a(KOMP)Wtsi}
eye, cornea/lens fusion, corneal opacity, HOM, Female, WTSI

Human diseases caused by Mysm1 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.

Human diseases associated with Mysm1 (2 diseases)
Human diseases predicted to be associated with Mysm1 (1614 diseases)

The table below shows human diseases associated to Mysm1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome		Short humerus, Short metacarpal, Thrombocytopenia, Abnormal thorax morphology, Reticulocytopenia,...	ORPHA:508542
Bone Marrow Failure Syndrome 4		Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity...	OMIM:618116

The table below shows human diseases predicted to be associated to Mysm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Immunodeficiency 27A	Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight ...	OMIM:209950
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Ptosis, Hypersplenism, Splenomegaly, Bone pain, Anemia, Myoclonus, Hypocholesterolemi...	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Decreased circulating antibody level, Chorioretinal coloboma, Clinodactyl...	ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Reduced natural killer cell activity, S...	OMIM:603553
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Synophrys, Low anterior hairline, Flexion contracture, Pectus c...	OMIM:617303
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Immunodeficiency 43	Decreased circulating IgG level, Hypoplasia of the ulna, Radial bowing, Decreased specific antibo...	OMIM:241600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Lymphangiectasia, Intestinal	Lymphopenia, Abnormal hair morphology, Decreased circulating IgG level, Prominent floating ribs, ...	OMIM:152800
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hemolytic-uremic syndrome, Osteop...	ORPHA:2169
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Decreased circulating IgG level, Weight loss, Decreased circulating antibody lev...	ORPHA:90362
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Tremor, Flexion contracture, Renal cyst, Dysmetria, Hypoalbuminemia, Hypocholesterole...	OMIM:212065
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Lethargy,...	ORPHA:247585
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Alg12-Cdg	Proximal placement of thumb, Hypoalbuminemia, Hypocholesterolemia, Clinodactyly of the 5th finger...	ORPHA:79324
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Reduced bone mineral density, Retinal dysplasia, Her...	OMIM:617052
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, M...	OMIM:208920
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Reduced n...	OMIM:616050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Clubbing, Decreased circulating antibody level, Iron deficiency anemia, Clubbing of fingers, Hypo...	OMIM:226300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Hypoalbuminemia...	ORPHA:505248
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop...	ORPHA:507
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Failure to thrive, Elevated circulating C-reactive protein concent...	OMIM:615934
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Abnormality of the hand, Trem...	OMIM:160120
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc...	OMIM:308240
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Nail dystrophy, S...	OMIM:615895
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Ataxia, Osteoporosis, Rickets, Weight loss, Depression, Iron deficie...	OMIM:212750
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Retinal degeneration, Barrel-shaped chest, Increased bone mineral density, Ankylosis,...	OMIM:239000
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Abno...	OMIM:226990
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Sco...	OMIM:619013
Alg6-Cdg	Ataxia, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Shortening of all distal pha...	ORPHA:79320
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal hair pattern, Delay...	ORPHA:2315
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hematuria,...	OMIM:617021
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypo...	ORPHA:79443
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, In...	OMIM:618048
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy...	OMIM:235900
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoa...	ORPHA:14
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatem...	OMIM:103580
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o...	ORPHA:75564
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Hypocal...	ORPHA:94093
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Acrodysostosis 1 With Or Without Hormone Resistance	Accelerated skeletal maturation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic ver...	OMIM:101800
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia...	ORPHA:3319
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Short metatarsal, Obesity, Osteoporosis, Hyperphosphatemia, Hypocal...	OMIM:612462
Aicardi-Goutieres Syndrome 9	Hypertonia, Hypoalbuminemia, Micropenis, Self-mutilation, Hemolytic anemia, Osteoporosis, Chorior...	OMIM:619487
Poems Syndrome	Sclerosis of hand bone, Papilledema, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis...	ORPHA:2905
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Stage 5 chronic kidney di...	OMIM:617575
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker...	ORPHA:89838
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Sparse hair, Hypospadias, Increased mean platelet volume, Decrease...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes equin...	OMIM:608104
Ménétrier Disease	Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Short neck, Splenomegaly, Postaxial hand polydactyly, Downslanted palpebral fiss...	OMIM:235255
Dengue Fever	Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Pseudohypoparathyroidism Type 1C	Short neck, Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal pha...	ORPHA:79444
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circul...	OMIM:614034
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata...	ORPHA:96180
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r...	ORPHA:158061
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Confusion, Depression, Irritability, Hyp...	ORPHA:36913
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f...	ORPHA:79445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor...	OMIM:606612
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Dela...	ORPHA:3268
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Abnormality of tumor nec...	ORPHA:540
Galloway-Mowat Syndrome 6	Epicanthus, Proteinuria, Delayed skeletal maturation, Nephrotic syndrome, Focal segmental glomeru...	OMIM:618347
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Multiple joint contractures, Elevated circulating creatine kinase...	ORPHA:370968
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Congenital Disorder Of Glycosylation, Type Ij	Single transverse palmar crease, Aggressive behavior, Tremor, Flexion contracture, Hypertonia, Cl...	OMIM:608093
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Short neck, Splenomegaly, Postaxial hand polydactyly, Hepatosplenomegaly, Downsl...	ORPHA:1655
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste...	ORPHA:1304
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Diamond-Blackfan Anemia	Pure red cell aplasia, Short neck, Low anterior hairline, Reticulocytopenia, Leukopenia, Triphala...	ORPHA:124
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys...	ORPHA:94089
Diamond-Blackfan Anemia 1	Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triphalangeal thumb...	OMIM:105650
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Bone pain, Abnormal form of the vertebral bodies, Hypocalcemia, Genu varum, Al...	ORPHA:93160
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr...	ORPHA:29073
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, L...	ORPHA:157850
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Tremor, Leukocytosis, Choreoathetosis, Increased circulating Ig...	ORPHA:206594
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Proximal placement of thumb, Abnormal hair pattern...	ORPHA:261250
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Hemorrhagic Fever-Renal Syndrome	Back pain, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial ne...	ORPHA:340
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Horizontal ribs, Delayed skeletal mat...	OMIM:614857
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Ataxia, Osteoporosis, Nail pits, Reticular hyperpigmentat...	OMIM:127550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased c...	ORPHA:98813
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:277440
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Macrocytic anemia, Short thumb, Osteoporosis, Horseshoe ki...	OMIM:612562
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Hyperammonemia,...	ORPHA:1667
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Wei...	ORPHA:2070
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Drusen, Chronic kidney disease, Stage 5 chronic kidney disease,...	ORPHA:54370
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Nephrocalc...	OMIM:611590
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc...	OMIM:615688
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Ataxia, Delayed skeletal maturation, Pigmentary retinopathy,...	ORPHA:3363
Diamond-Blackfan Anemia 6	Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T...	OMIM:612561
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag...	OMIM:127000
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac...	OMIM:277410
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed...	OMIM:241530
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Gait ataxia, Focal dystoni...	ORPHA:309169
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat...	ORPHA:48818
Beta-Ketothiolase Deficiency	Ketonuria, Ataxia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Agitation, Hyperuricemia,...	ORPHA:134
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Joint laxity, Microcytic anemia, Hyp...	OMIM:600462
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Ataxia, Anorexia, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Weight loss, Leuk...	ORPHA:20
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:264700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Thoracolumbar kyphosis, Increased intervertebral space, Opisthotonus, T l...	ORPHA:508533
Squalene Synthase Deficiency	Epicanthus, Failure to thrive in infancy, Hypospadias, Optic nerve hypoplasia, Increased circulat...	OMIM:618156
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Hammertoe, Fasciculations, Difficulty...	OMIM:615048
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Aminoacid...	OMIM:277900
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:600081
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss...	ORPHA:337
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr...	ORPHA:158048
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Spasti...	ORPHA:1445
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Flexion contracture, Dysphagia, Depression, Anemia, Decr...	ORPHA:89842
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Large for gestational age, Short...	OMIM:213980
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum...	ORPHA:37042
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Increased level of L-pyro...	OMIM:266130
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Iron deficiency anemia, Reduced bone mine...	ORPHA:93315
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Brachydactyly, Epicanthus, Down-sloping shoulders, Abnormal ...	ORPHA:1390
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocytosis, S...	ORPHA:824
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Short palm, Clinodactyly of the 5th...	ORPHA:915
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency, Anemia	ORPHA:655
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Renal insufficiency, Postural tremor, Proteinuria, Unsteady gait, Mental deterioration, Gait atax...	OMIM:254900
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Recurrent myoglobinuria...	ORPHA:99845
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris...	OMIM:610883
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Spasticity, Elevated circulating creatine kinase concentration	OMIM:617613
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Waddling gait, Babinski sign, Pigmentary retinopathy, Hammertoe, Scoliosis, Spasticity	OMIM:619090
Dubowitz Syndrome	Aplastic anemia, Single transverse palmar crease, Hypocholesterolemia, Clinodactyly of the 5th fi...	OMIM:223370
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT...	OMIM:603233
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Cln3 Disease	Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated...	ORPHA:228346
Myopathy With Extrapyramidal Signs	Elevated circulating creatine kinase concentration, Clonus, Short neck, Tremor, Chorea, Choreoath...	OMIM:615673
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hyperpigmentation of the skin, Scarring, Craniosynostosis, Onychogryposis, Depigmentati...	ORPHA:79396
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Small for gestational age, Inguinal hernia, Increased mea...	ORPHA:84064
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Malignant Hyperthermia, Susceptibility To, 3	Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia	OMIM:238700
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-ind...	OMIM:607155
Kbg Syndrome	Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Single transverse palmar crea...	ORPHA:2332
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	ORPHA:169154
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Delayed skeletal ma...	ORPHA:330015
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Alopecia, Proteinuria, Abnormality of body weight, Decr...	ORPHA:2298
Sanjad-Sakati Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Delayed skeletal m...	ORPHA:2323
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Delayed skeletal maturation, Small hand, Short foot, Hyperphosphatemia, Hy...	OMIM:241410
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, ...	ORPHA:93325
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ...	OMIM:619774
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ...	ORPHA:485
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased...	ORPHA:247598
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Reduced bone mineral densit...	ORPHA:2611
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Alg1-Cdg	Renal insufficiency, Kyphosis, Limitation of joint mobility, Nephrotic syndrome, Hypoalbuminemia,...	ORPHA:79327
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H...	ORPHA:292
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al...	OMIM:615559
Tick-Borne Encephalitis	Back pain, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Tremor, L...	ORPHA:297
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentra...	OMIM:167320
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Osteomyelitis, Fasciitis, Elevated circulating creatine kinase concentration...	ORPHA:36234
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag...	ORPHA:289157
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Clonus, Chorioretinal dysplasia, Oligosacchariduria, Nephrocalcinosis, Aminoacidur...	ORPHA:534
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Writer's cramp, Optic atrophy, Hypercalciuria, Reduced ...	ORPHA:428
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Liver Disease, Severe Congenital	Dry hair, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentra...	OMIM:619991
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Cognitive i...	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Epicanthus, Single transverse palmar crease, Elevated circulating...	OMIM:619743
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T...	OMIM:616267
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Eosinophilia, Craniosynostosis, Thoracolumbar scoliosis, Increased circulating IgE l...	OMIM:618523
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,...	ORPHA:2522
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic iliac wing, Short palm,...	OMIM:235510
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia, My...	OMIM:145600
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Ataxia, Eosinophilia, Ab...	OMIM:615816
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seiz...	OMIM:146200
Cohen Syndrome	Abnormal eyelid morphology, Low anterior hairline, Abnormality of skin pigmentation, Neutropenia,...	ORPHA:193
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbumine...	ORPHA:99826
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren...	ORPHA:436
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem...	ORPHA:276435
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Pigmen...	OMIM:614307
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Small for gestational age, Single transverse palmar crease,...	OMIM:216550
Peroxisome Biogenesis Disorder 3B	Ataxia, Single transverse palmar crease, Retinal dystrophy, Rod-cone dystrophy, Elevated circulat...	OMIM:266510
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Huntington Disease-Like 1	Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax...	ORPHA:157941
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Aggressive behavior, Optic atrop...	ORPHA:313892
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Hypotrigl...	ORPHA:404454
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Proteinu...	ORPHA:85443
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Oculopharyngodistal Myopathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy, Dysph...	OMIM:619473
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Failure to thrive in infancy, Anemia, Cognitive impairment, ...	ORPHA:858
Ataxia-Tapetoretinal Degeneration Syndrome	Ataxia, Pigmentary retinopathy, Gait disturbance, Cognitive impairment, Rod-cone dystrophy	ORPHA:1178
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi...	OMIM:619565
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Hypoalbuminemia, Hypopigmentation of the skin, Ataxia, Hiatus hernia...	OMIM:251300
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Ataxia-Telangiectasia	Lymphopenia, Hypopigmentation of hair, Ataxia, Tremor, Decreased circulating antibody level, Prem...	ORPHA:100
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Koolen-De Vries Syndrome	Vesicoureteral reflux, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusion, Hyperac...	OMIM:610443
Igg4-Related Aortitis	Low back pain, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentr...	ORPHA:449400
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Hyperlordosis, Inability to walk, Flexion con...	OMIM:613156
Infantile Sialic Acid Storage Disease	Osteopenia, Epicanthus, Fair hair, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal thorax m...	OMIM:269920
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Epicanthus, Arachnodactyly, Decreased palmar creases, Limite...	OMIM:108145
Vici Syndrome	Elevated circulating creatine kinase concentration, Albinism, Leukopenia, T lymphocytopenia, Neut...	OMIM:242840
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Thick hair, Tremor, Pectus excavatum,...	OMIM:617675
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Ck Syndrome	Long toe, Epicanthus, Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, A...	ORPHA:251383
Cofs Syndrome	Abnormality of retinal pigmentation, Prominent metopic ridge, Camptodactyly of finger, Joint stif...	ORPHA:1466
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Isolated Klippel-Feil Syndrome	Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormal rib morphology, Low post...	ORPHA:2345
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Immunodeficiency, Common Variable, 11	Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory...	OMIM:615767
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:301074
Spinocerebellar Ataxia, Autosomal Recessive 29	Lower limb spasticity, Optic disc pallor, Generalized dystonia, Ataxia, Inability to walk, Retina...	OMIM:619389
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Horizontal in...	OMIM:102700
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive ...	OMIM:612852
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Autoerythrocyte Sensitization Syndrome	Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Joint hemorrhage, Depression, Hemat...	ORPHA:324636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytos...	OMIM:618278
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Thick hair, Tremor, Pectus excavatum, Generalized joint laxity, Delayed skelet...	ORPHA:502423
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Oliguria, Hy...	ORPHA:466650
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Intention tremor, Ataxia, Hyperlordosis, Clinodactyly of the 2nd finger, Decreased ci...	ORPHA:221139
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Long palm, Single transverse palmar crease, Congenita...	OMIM:244450
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture...	OMIM:608799
Hypophosphatemic Rickets, X-Linked Dominant	Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin...	OMIM:307800
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton...	ORPHA:529808
Oliver-Mcfarlane Syndrome	Alopecia, Hypoplasia of penis, Small for gestational age, Central heterochromia, Long eyebrows, P...	OMIM:275400
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton...	ORPHA:529799
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen...	OMIM:277400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Short...	OMIM:618845
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis	ORPHA:280062
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular scler...	OMIM:619155
Microcephalic Primordial Dwarfism, Toriello Type	Delayed skeletal maturation, Abnormal rib morphology, Decreased circulating total IgM, Abnormal e...	ORPHA:2643
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Short neck, Low anterior hairline...	ORPHA:800
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Delayed skeletal maturation, F...	OMIM:609628
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,...	OMIM:145250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Autism Spectrum Disorder Due To Auts2 Deficiency	Decreased palmar creases, Congenital contracture, Hypertonia, Joint contracture of the 5th finger...	ORPHA:352490
Autosomal Recessive Spastic Paraplegia Type 15	Lower limb spasticity, Frontotemporal dementia, Functional abnormality of the bladder, Babinski s...	ORPHA:100996
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Koolen-De Vries Syndrome	Overfriendliness, Ureteral duplication, Epicanthus, Hypopigmentation of hair, Arachnodactyly, Hyp...	ORPHA:96169
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Craniosynostosis, Recurrent fractures, Increased circulating IgE level,...	OMIM:147060
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia, Cognitive impairment	ORPHA:2246
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Bone pain, Iron deficiency anemia, ...	ORPHA:89937
Cockayne Syndrome Type 1	Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Foot joint contracture, Hypermel...	ORPHA:90321
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Part...	OMIM:616730
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Epicanthus, Camptodactyly of finger, Recurrent fractures, Sh...	ORPHA:3409
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Confusion...	ORPHA:3260
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Inguinal her...	OMIM:613658
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive...	OMIM:619824
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Abnormality of retinal pigment...	ORPHA:474
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx...	OMIM:258480
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Pigmentar...	OMIM:164500
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Splenomegaly, Hyperc...	OMIM:239200
Mccune-Albright Syndrome	Pancytopenia, Hyperphosphaturia, Osteomalacia, Monostotic fibrous dysplasia, Recurrent fractures,...	ORPHA:562
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis, Lateral displ...	OMIM:242900
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Cystinosis	Renal insufficiency, Proteinuria, Rickets, Abnormal pyramidal sign, Renal tubular dysfunction, Hy...	ORPHA:213
Cartilage-Hair Hypoplasia	Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, S...	OMIM:250250
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Psychomotor deterioration, Deficit in phonologic short-term memory, Bilateral ptosis, Abnormal py...	ORPHA:329336
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Progressive neurologic deterioration, Synophrys, Flexion contractur...	ORPHA:581
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th...	ORPHA:370010
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Lymphopenia, Increased circulating IgE level, Increased suscepti...	OMIM:619752
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of...	OMIM:615990
Ceroid Lipofuscinosis, Neuronal, 7	Ataxia, Optic atrophy, Pigmentary retinopathy, Mental deterioration, Retinopathy	OMIM:610951
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen...	OMIM:301082
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho...	ORPHA:88618
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Weight lo...	ORPHA:100024
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con...	ORPHA:90363
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Anorexia, Nephrocalcinosis, Unossified vertebral bodies, Increase...	OMIM:241500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent...	OMIM:242150
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retino...	ORPHA:71
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar...	OMIM:615924
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Rhi...	ORPHA:239
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Rod-cone dystrophy, Spasticity, Weigh...	ORPHA:216866
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnorma...	ORPHA:277
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, B...	ORPHA:506353
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Optic atrophy, Dysphagia, Pigmentary retinopathy, Irritability, Hypertonia, Dyston...	OMIM:264470
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Ataxia-Telangiectasia	Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus...	OMIM:208900
Interstitial Lung And Liver Disease	Clubbing, Intraalveolar phospholipid accumulation, Hyperammonemia, Aminoaciduria, Thrombocytosis,...	OMIM:615486
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Neutropenia, Chronic Familial	Clubbing of fingers, Increased circulating antibody level, Clubbing, Neutropenia	OMIM:162700
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Ring Chromosome 14 Syndrome	Epicanthus, Short neck, Almond-shaped palpebral fissure, Pigmentary retinopathy, Blepharophimosis...	OMIM:616606
Diaphanospondylodysostosis	Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Multiple renal cysts...	ORPHA:66637
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Epicanthus, Arachnodactyly, Proteinuria, Hiatus hernia, Pectus excav...	OMIM:617729
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Hyperphosphaturia, Osteomalacia, Bowing of the legs, Increased circulating beta-C-...	ORPHA:157215
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Dementia, Tongue fascicula...	OMIM:159950
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Hyperconvex fingernails, Hypertonia, Pro...	ORPHA:192
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoacidu...	OMIM:219800
Verheij Syndrome	Joint laxity, Vertebral fusion, Small for gestational age, Optic nerve hypoplasia, Short neck, Hi...	OMIM:615583
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Flexion contracture, Hepatosplenomegaly, Clumsiness, Ey...	ORPHA:2590
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Microscopic hematuria	ORPHA:84090
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Ankle swelling, Wrist swelling, Retinal pigment epithelia...	ORPHA:448237
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Increased circulating IgG level, De...	OMIM:618495
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,...	OMIM:617013
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypertonia, Hy...	OMIM:270400
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis, Posterior fusion of lumbosacral vertebrae	OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Flexion contracture, Babinski sign, Optic atrophy, Pigmentary retinopathy, Myoc...	OMIM:252011
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Spasticity, Increased circulatin...	OMIM:618213
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Epicanthus, Hypospadias, Microcytic anemia, Short neck, Short toe, Flexion contracture, Pectus ca...	ORPHA:98791
Gorlin Syndrome	Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Palmar pits, Hemivertebrae, Vertebral ...	ORPHA:377
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Limi...	OMIM:222300
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinod...	OMIM:274000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy...	OMIM:251880
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Poor coordination, Absence of subcutaneous fat, Optic...	OMIM:610965
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,...	ORPHA:33445
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Abnormality of retinal pigmentation, Recu...	ORPHA:2801
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Spl...	ORPHA:381
Juvenile Polyposis Of Infancy	Refractory anemia, Subcutaneous lipoma, Cachexia, Clubbing of fingers, Midclavicular hypoplasia, ...	ORPHA:79076
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Failure to thrive, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Spastic te...	OMIM:619055
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne...	OMIM:300554
Lamb-Shaffer Syndrome	Epicanthus, Hyperactivity, Ataxia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thorac...	ORPHA:530983
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp...	ORPHA:352540
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia, Failure t...	OMIM:607765
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Irritability, Hypoalbumine...	OMIM:613070
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Epicanthus, Palpebral edema, Single transverse palmar crease, Metatarsus adduc...	OMIM:214110
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, R...	OMIM:213600
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Ataxia, Retinal dystrophy, Chronic kidney disease, Stage 5 c...	ORPHA:3156
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentati...	OMIM:611209
Pearson Syndrome	Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Ataxia, Hypokalemia, Hypomagnesemia, Glyc...	ORPHA:699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Decreased proportion of naive T ...	ORPHA:276
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo...	ORPHA:177910
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:241200
Doors Syndrome	Abnormal finger morphology, Low anterior hairline, Hemivertebrae, Nephrocalcinosis, Absent finger...	ORPHA:79500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Progressive neurologic deterioration, Hyperlordosis, Tremor, Limitation of joint mob...	ORPHA:1192
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl...	OMIM:268310
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne...	OMIM:300009
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Splenomegaly, Spastic diplegia, Anemia, Abnormal metaphysis ...	ORPHA:290
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Irrit...	ORPHA:848
Kbg Syndrome	Single transverse palmar crease, Short neck, Epispadias, Synophrys, Low anterior hairline, Thorac...	OMIM:148050
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased LDL cholesterol c...	OMIM:616834
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal cyst, Hypertonia, Neutropenia, Vesicoureteral reflux, Joint contractu...	OMIM:618460
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Hyperlordosis, Tr...	OMIM:128100
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h...	ORPHA:373
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hyperreflexia	Ankle clonus, Abnormality of retinal pigmentation	OMIM:145290
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Epicanthus, Hyperactivity, Highly arched eyebrow, Autoimmune throm...	OMIM:301069
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Progressive psychomotor deterioration, Motor deterio...	ORPHA:3208
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin...	ORPHA:93351
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Osteopenia, Bowing of the long bones, Hyperphosphaturia, Hip contracture, Hypercal...	OMIM:156400
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Renal hy...	OMIM:609053
Cockayne Syndrome	Dry hair, Urinary incontinence, Progressive gait ataxia, Congenital contracture, Hypertonia, Reti...	ORPHA:191
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc...	OMIM:618000
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Re...	ORPHA:470
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s...	ORPHA:96
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr...	OMIM:615010
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con...	OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia...	OMIM:617591
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eye...	OMIM:234200
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Lethargy, Delirium, Re...	ORPHA:79282
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coor...	ORPHA:363400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Tre...	ORPHA:667
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Cherry red spot of the macul...	ORPHA:354
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of toe, Brachydactyly, Single transverse palmar crease, Abnormality of hair ...	OMIM:601957
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Boutonneuse Fever	Abnormal skin morphology of the palm, Renal insufficiency, Increased circulating IgG level, Incre...	ORPHA:83313
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme...	OMIM:618387
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating Ig...	OMIM:304790
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:253290
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia, Carnos...	OMIM:236130
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Eosinophilia, Increased circulating IgE level, Spinal canal stenosis, De...	OMIM:618282
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Poor motor coordination, Parkinsonism, Dysphagia, Clumsiness, Poor fine motor ...	ORPHA:79264
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Renal insufficiency, Elevated c...	ORPHA:160
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Flexion contracture of finger, Decreased number of sweat glands, Swelli...	ORPHA:69087
Primary Sclerosing Cholangitis	Osteopenia, Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepa...	ORPHA:171
Igg4-Related Pachymeningitis	Abnormality of the cervical spine, Low back pain, Eosinophilia, Increased circulating IgG4 level,...	ORPHA:449427
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Retinal pigment epithelial mottling, Dementia, Rod-cone dystrophy, Retinopathy	OMIM:551500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Joint dislocation, Joint stiffness, Splenomegaly, Reduced bone m...	OMIM:620210
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Aminoaciduria, Loss of ambulation, Ulnar deviation of the hand o...	OMIM:214100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hyperlordosis, Kyphosis, Short toe, Delayed skeletal maturat...	ORPHA:3085
Aspergillosis	Osteomyelitis, Eosinophilia, Dacryocystitis, Increased circulating IgE level, Abnormal rib morpho...	ORPHA:1163
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Synophrys, Self hugging, Broad palm, Inc...	OMIM:182290
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Sodium-Dependent Multivitamin Transporter Deficiency	Clubbing of fingers, Decreased circulating IgG level, Cerebral palsy, Spasticity	OMIM:618973
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Conjugated hyperbilirubinem...	OMIM:614866
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Adult-Onset Nemaline Myopathy	Paraproteinemia, Flexion contracture, Neuromuscular dysphagia, Bradykinesia, Poor fine motor coor...	ORPHA:171442
Sialidosis Type 2	Inguinal hernia, Ataxia, Tremor, Splenomegaly, Kyphosis, Short thorax, Osteoporosis, Flexion cont...	ORPHA:87876
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphal...	ORPHA:628
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Premature graying of hair, S...	OMIM:612199
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac...	OMIM:617282
Hereditary Methemoglobinemia	Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,...	ORPHA:621
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Vesicoureteral reflux, Clinodactyly of the 5t...	OMIM:244600
Caspase 8 Deficiency	Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:607271
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati...	OMIM:613327
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Epicanthus, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocatio...	ORPHA:2916
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Telecanthus, Inguinal hernia, Short neck, Pectus excavatum,...	OMIM:130720
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Failure to thrive secondary to r...	OMIM:601457
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hip dislocation, Pigmentary retinopathy, Hyperglycinemia, Scoliosis, Hyperalaninemia, Spasticity	OMIM:619059
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Hyperactivity, Small for gestational age, Lumbar hyperlordosis, Overweight, Syn...	OMIM:617796
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Epicanthus, Broad-based gait, Anterior concavity of thoracic vertebrae, Limb ataxia, Persistence ...	OMIM:617101
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ...	OMIM:618987
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Joint hypermobility, Oral-pharyngeal dysphagia, Tremor, Synophrys, Prominent protrudi...	ORPHA:480907
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:312150
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Ataxia, Progressive intervertebral space narrowing, Hemipleg...	ORPHA:480
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire...	ORPHA:89938
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Epicanthus, Broad hallux, Single ...	OMIM:614105
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait...	OMIM:610185
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Short neck, Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Park...	OMIM:300055
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Pigmentary retinopathy, Scoliosis, Failure to thrive	OMIM:618234
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Juvenile Polyposis Syndrome	Clubbing, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Tremor, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpal...	ORPHA:476126
Say-Barber-Miller Syndrome	Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, Macular degeneration, ...	ORPHA:3132
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, Failure to thrive	OMIM:602579
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Increased circulating IgE level, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Shor...	ORPHA:1858
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Redu...	OMIM:300400
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Microcephaly-Albinism-Digital Anomalies Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation of the skin, Short dista...	ORPHA:2513
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Accelerated skeletal maturation, Synophrys, Clinodactyly of the 5th finger,...	OMIM:605130
Griscelli Syndrome Type 2	Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature...	ORPHA:79477
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Decerebrate rigidity, Abnormal od...	ORPHA:79255
Leber Congenital Amaurosis 1	Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Eye poking, Hyperth...	OMIM:204000
Mosaic Trisomy 14	Ptosis, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Abnormal rib morph...	ORPHA:1703
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urin...	OMIM:252930
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Sandal gap, Cognitive impair...	ORPHA:2515
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Clonus, Spastic tetraparesis, Macular coloboma, Babinski si...	ORPHA:423479
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased...	OMIM:617093
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Ataxia, Single transverse palmar crease, Kyphosis, Synophrys, Unsteady gait, Decreased circulatin...	OMIM:300861
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Rift Valley Fever	Back pain, Retinitis, Anorexia, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Hematu...	ORPHA:319251
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Palmoplantar keratoderma, Hypoalbuminemia, Hypernatremia, Sparse...	OMIM:615508
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Nail dystr...	ORPHA:158681
Combined Oxidative Phosphorylation Deficiency 37	Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atrophy, 3-Methylglu...	OMIM:618329
Mohr-Tranebjaerg Syndrome	Tremor, Intrinsic hand muscle atrophy, Increased susceptibility to fractures, Spasticity, Dysphag...	OMIM:304700
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, ...	OMIM:607143
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal form of the vertebral bodies, Hyperconvex fingernails, ...	OMIM:194190
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Recurrent fractures, Abnormal hair mor...	ORPHA:2314
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Optic atro...	ORPHA:436271
Atypical Rett Syndrome	Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Gait disturbance...	ORPHA:3095
48,Xxyy Syndrome	Hypoplasia of penis, Epicanthus, Ataxia, Abnormal dental enamel morphology, Inguinal hernia, Blep...	ORPHA:10
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys...	OMIM:300232
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Tremor, Delayed skeletal maturation, Decreased circulating IgA level, Decreased circulating antib...	OMIM:617744
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Ataxia, Short toe,...	OMIM:139210
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Bone spicule pigmentation of the retina, Ataxia, Urinary incontinence, Rod-cone...	OMIM:609033
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Hypomagnesemia, Delay...	OMIM:244460
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba...	ORPHA:644
Immunodeficiency 70	Palmar warts, Decreased circulating antibody level, Decreased circulating total IgA, Decreased ci...	OMIM:618969
Juvenile Polyposis Syndrome	Brain abscess, Multiple lipomas, Clubbing of fingers, Downslanted palpebral fissures, Rectocele, ...	ORPHA:2929
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Renal insufficiency, Hypertrigl...	OMIM:203800
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Saccharopinuria	Citrullinuria, Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Cystinuria, Gait at...	ORPHA:3124
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Autoimmune Hepatitis	Glomerulonephritis, Splenomegaly, Depression, Increased circulating IgG level, Arthritis, Increas...	ORPHA:2137
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Block vertebrae, Abnormal odontoid process morphology, Miss...	OMIM:613686
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Scapular winging, Broad-based gait, Ataxia, Retinal pigment epithelial mottling, Babinski sign, D...	OMIM:607459
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Hyperphosphaturia, Rickets, Hypercalc...	ORPHA:2088
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Thrombocytop...	OMIM:616638
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, De...	OMIM:620005
Trisomy X	Multicystic kidney dysplasia, Epicanthus, Tremor, Pectus excavatum, Depression, Upslanted palpebr...	ORPHA:3375
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Abnormal sacrum morphology, Long penis, Rib fusion, Abnormal rib mo...	ORPHA:1988
Leigh Syndrome	Ataxia, Optic atrophy, Hypertrichosis, Pigmentary retinopathy, Dystonia, Emotional lability, Spas...	OMIM:256000
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Renal insufficiency, Ataxia, Splenomegaly,...	ORPHA:773
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Eem Syndrome	Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormality of retinal pigmentation, Ectrod...	ORPHA:1897
Gaucher Disease	Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Tremor, Ost...	ORPHA:355
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Small hand, Abnormal pyramidal sign, Bruxism, Dysphagia, Short f...	OMIM:617435
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morph...	ORPHA:1328
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki...	ORPHA:423
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Metaphyseal widening, Sparse hair,...	OMIM:252500
3Q29 Microdeletion Syndrome	Hypospadias, Tapered finger, Pectus excavatum, Aggressive behavior, Horseshoe kidney, Pectus cari...	ORPHA:65286
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Impulsivity, Ectopic kidney, Missing ribs, Joint stiff...	ORPHA:3027
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Sh...	ORPHA:233
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr...	OMIM:617302
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Aicardi Syndrome	Abnormality of skin pigmentation, Multiple lipomas, Hypertonia, Chorioretinal coloboma, Hiatus he...	ORPHA:50
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, ...	OMIM:614700
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic...	ORPHA:289176
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip...	OMIM:250460
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Proteinuria, Anorexia, Hypersplenism, S...	ORPHA:77259
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Sparse hair, Rhizomelia, Sparse eyebrow, Ab...	OMIM:302960
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals, Short ...	OMIM:151200
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Urinary incontinence, Parkinsonism, Progressive neurologic deteriora...	ORPHA:329478
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl...	OMIM:171480
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis, Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies,...	ORPHA:2064
Coccidioidomycosis	Renal insufficiency, Osteomyelitis, Eosinophilia, Abscess, Abnormal retinal morphology, Abnormali...	ORPHA:228123
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Inguinal hernia, Papilledema, Short neck, Heparan sulfate ex...	OMIM:309900
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Spina bi...	OMIM:150250
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Clubbing, Hyperostosis, Hypoalbuminemia, Periostosis, Knee pain	OMIM:614441
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Finger clinodactyly, P...	ORPHA:79474
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ...	ORPHA:3082
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Sparse eyebrow, Spasticity, Hypocholesterolemia, Micropenis	OMIM:618810
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia	OMIM:610798
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hyperconvex fingernails, Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Tapered fing...	ORPHA:2215
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Sev...	ORPHA:83617
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa...	ORPHA:666
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Japanese Encephalitis	Stiff neck, Genu recurvatum, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respira...	ORPHA:79139
Jaberi-Elahi Syndrome	Brittle hair, Tremor, Dysmetria, Pectus carinatum, Choreoathetosis, Gait ataxia, Sparse hair, Spa...	OMIM:617988
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Ptosis, Failure to thrive in infancy, Singl...	OMIM:613385
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Ataxia, Abnormal dense granu...	OMIM:214500
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim...	ORPHA:2388
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Osteoporosis, Increased circulati...	ORPHA:186
Cockayne Syndrome A	Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation,...	OMIM:216400
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Osteolysis, Failure to th...	ORPHA:3019
Angiostrongyliasis	Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig...	ORPHA:74
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ...	ORPHA:254881
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Splenomegaly, Increased urinary...	ORPHA:812
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short neck, Tremor, Synophrys, Short palm, Clinodactyly of the 5th finger, H...	ORPHA:85293
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Increased circulating IgM ...	ORPHA:37748
Werner Syndrome	Sparse scalp hair, Increased bone mineral density, Abnormality of retinal pigmentation, Lipodystr...	ORPHA:902
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme...	ORPHA:93267
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Nail dystrophy, Hypocholesterolemia, Thrombocyt...	ORPHA:31150
Neurofibromatosis Type 1	Abnormal eyelid morphology, Multiple lipomas, Chorioretinal coloboma, Heterochromia iridis, Genu ...	ORPHA:636
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Prolidase Deficiency	Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Splenomegaly...	ORPHA:742
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le...	OMIM:247800
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Increased circulating IgE level, Abnormality of the elbow, Atrophic scars, Nail dystrop...	ORPHA:89843
Radio-Tartaglia Syndrome	Tremor, Synophrys, Low anterior hairline, Abnormal repetitive mannerisms, Ataxia, Highly arched e...	OMIM:619312
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla...	OMIM:252940
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Short attention span, Broad-based gait, Hypopigmentation of hai...	ORPHA:98794
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palm...	OMIM:109400
Activated Pi3K-Delta Syndrome	Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level, Arthritis, B...	ORPHA:397596
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals...	ORPHA:760
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ...	ORPHA:293978
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Netherton Syndrome	Sparse scalp hair, Failure to thrive, Brittle hair, Brittle scalp hair, Sparse eyebrow, Increased...	OMIM:256500
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Small for gestational age, Ataxia, Parkinsonism, Progressive neurologic deterioration, ...	OMIM:261640
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Epicanthus, Telecanthus, Rocker bottom foot, Short neck, Pectus excavatu...	OMIM:612582
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Abnormal rib mor...	ORPHA:1354
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d...	ORPHA:582
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Stif...	ORPHA:99827
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Pigmentary retino...	ORPHA:79095
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Sneddon Syndrome	Tremor, Decreased circulating total IgM, Atrophic scars, Hemiplegia, Mental deterioration, Lympho...	OMIM:182410
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Hyperactivity, Small for gestational age, Single transverse palmar crease, ...	ORPHA:73272
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Monoclonal elevation ...	ORPHA:91139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytope...	OMIM:614069
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Rod...	ORPHA:88628
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Abnormal pyramidal sign, Abnormality of skin pigmentati...	ORPHA:93473
Eisenmenger Syndrome	Brain abscess, Renal insufficiency, Elevated circulating C-reactive protein concentration, Clubbi...	ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Ataxia, Optic atrophy, Truncal ataxia, Renal tubular dysfunction,...	OMIM:220110
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ...	OMIM:177170
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Alopecia, Leukocytosis, Abnormal blood ion concentration, Olig...	ORPHA:31824
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, St...	OMIM:613280
Stiff-Person Syndrome	Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Depression, Myoclonic...	OMIM:184850
Renpenning Syndrome	Abnormal hairshaft morphology, Epicanthus, Alopecia, Hypospadias, Cachexia, Joint stiffness, Pect...	ORPHA:3242
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Vertebral segmentation defect, Triphalangeal thumb, Chorioretinal coloboma...	ORPHA:959
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Tremor, Synophrys, Wide penis, Hypoplastic vertebral bodies, H...	ORPHA:3455
Shashi-Pena Syndrome	Short metacarpal, Epicanthus, Highly arched eyebrow, Unilateral renal agenesis, Accelerated skele...	OMIM:617190
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Thickened ribs, Progressive neurologic deterioration, Joint stiffness, Heparan sul...	OMIM:252920
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Coarse hair, Narrow chest, Short palm, La...	ORPHA:198
Classic Phenylketonuria	Hypopigmentation of hair, Tremor, Mental deterioration, Paraplegia, Depression, Self-injurious be...	ORPHA:79254
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Premature graying of hair, Hyperto...	OMIM:123450
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O...	ORPHA:791
Tularemia	Brain abscess, Confusion, Leukocytosis, Anemia, Increased circulating antibody level, Conjunctivi...	ORPHA:3392
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Oste...	ORPHA:79329
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Retinal pigment ...	OMIM:617102
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Broad-based gait, Lower limb spasticity, Hyperactivity, Parkinsonism, Anorexia, A...	ORPHA:3077
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernume...	ORPHA:1433
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Bone pain, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic ric...	OMIM:193100
Raine Syndrome	Bowing of the long bones, Hydroureter, Increased bone mineral density, Micromelia, Highly arched ...	OMIM:259775
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Polyuria, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary r...	OMIM:560000
Cockayne Syndrome B	Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation,...	OMIM:133540
Spinocerebellar Ataxia 48	Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G...	OMIM:618093
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, R...	OMIM:275350
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria...	OMIM:309000
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Renal cyst, Abn...	ORPHA:79303
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia,...	OMIM:619510
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Single transverse palmar crease, Tremor, Synophrys, Low anterior hairline, Compulsive behaviors, ...	OMIM:617061
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre...	OMIM:312080
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Decreased circulating antibody level, Hypoalbuminem...	OMIM:618183
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hypopigmentation of hair, Broad-based gait, Ataxia, Hyperactivity, Polyphag...	ORPHA:411515
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Epicanthus, Hyperactivity, Sandal gap, Hypospadias, Craniosynostos...	ORPHA:254346
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy...	OMIM:609049
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T...	OMIM:215140
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc ...	ORPHA:508498
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Sandal gap, Proteinuria, Abnormal retin...	ORPHA:2715
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Periorbital hyperpigmentation, Hyperactivity, Delayed s...	ORPHA:261323
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Ataxia, Progressive neurologic deterioration, Ina...	ORPHA:70472
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General...	OMIM:613388
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Ost...	OMIM:227810
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu...	OMIM:135100
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE l...	OMIM:602450
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Mogs-Cdg	Thoracic scoliosis, Alopecia, Fair hair, Hirsutism, Optic atrophy, Hepatosplenomegaly, Decreased ...	ORPHA:79330
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short neck, 2-3 toe cutaneous syndac...	OMIM:609625
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Single transverse palmar crease, Rocker bottom foot, Postaxial poly...	OMIM:617527
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Epicanthus, Sandal gap, Dysgammaglobuli...	OMIM:251260
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil...	OMIM:300972
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Hemiplegia, Abnormality of retinal pigmentation, Ptosis	ORPHA:2743
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, S...	ORPHA:449395
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch...	OMIM:308230
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hyperactivity, Hypospadias, Short metatarsal, Advanced ossification of carpal b...	OMIM:614613
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Epicanthus, Craniosynostosis, Coxa valga, Delayed skeletal m...	ORPHA:2163
Incontinentia Pigmenti	Abnormal hand morphology, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bi...	ORPHA:464
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei...	OMIM:617099
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Renal insufficiency, Ataxi...	ORPHA:713
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea...	ORPHA:442835
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Short attention span, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, ...	ORPHA:225147
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Moebius Syndrome	Short neck, Congenital fibrosis of extraocular muscles, Lower limb undergrowth, Micropenis, Short...	OMIM:157900
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Hyperactivity, Joint stiffness, Heparan sulfate excretion in uri...	OMIM:252900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Confusion, Increased cir...	ORPHA:71212
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Ataxia, Tremor, Pectus excavatum, Gait ataxia, Upslanted palpebral fi...	OMIM:619092
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bod...	ORPHA:744
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co...	OMIM:615157
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp...	ORPHA:2319
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Synophrys, 2-3 toe syndactyly, Irritability, ...	ORPHA:391307
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Sparse eyelashes, Congenital diaphragmatic hernia, Tremor, Sparse eyebrow, Hemive...	ORPHA:370079
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte...	OMIM:256050
Melas	Short attention span, Abnormal central motor function, Proteinuria, Ataxia, Optic atrophy, Vitili...	ORPHA:550
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Absent fingernail, Synostos...	ORPHA:3258
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Glycosuria, Aminoaciduria, Hypophosphat...	OMIM:618913
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decr...	OMIM:619705
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Ataxia, Iris hypopigmentation, Ingui...	ORPHA:2719
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Progressive neurologic deterioration, Abnormal repetitive manne...	ORPHA:580
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, Cervical C2/C3 ...	OMIM:616549
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni...	OMIM:271510
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:614500
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hai...	ORPHA:897
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Palmoplantar hyperhidro...	OMIM:270300
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Alveolar Echinococcosis	Low back pain, Liver abscess, Ataxia, Eosinophilia, Abnormal pelvis bone morphology, Bone cyst, R...	ORPHA:284
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Epicanthus, Hyperactivity, Single transverse palmar crease, Kyphoscoliosis, Aggressiv...	OMIM:620075
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A...	OMIM:300310
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Joint stiffness, Splenomegaly, Optic a...	ORPHA:585
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Epicanthus, Wormian bones, Tapered finger, Flat acetabular roof, Upslanted p...	OMIM:617159
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu...	OMIM:253220
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage...	ORPHA:567546
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:614298
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Short neck, Abnormal rib morphology, Low posterior hairline, Scoliosis...	OMIM:118100
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Inguinal hernia, Rhiz...	OMIM:222765
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Multiple prenatal fractures, Short neck, Flexion contracture, Micropenis...	OMIM:616897
Aredyld Syndrome	Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly...	ORPHA:1133
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting the p...	ORPHA:2990
Laurence-Moon Syndrome	Ataxia, Abnormality of the hand, Spastic paraplegia, Chorioretinal atrophy, Obesity, Pigmentary r...	OMIM:245800
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral...	OMIM:214300
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Leukopenia, Hypocalcemia, Retinal atrophy, Di...	ORPHA:2785
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplasia...	OMIM:108720
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Distal Renal Tubular Acidosis	Hypocitraturia, Bone pain, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoacidu...	ORPHA:18
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical thickening...	ORPHA:309282
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormality of nail color, Abnormality of retinal pigmentation, Joint stiff...	ORPHA:1824
Neuromuscular Oculoauditory Syndrome	Epicanthus, Elevated circulating creatine kinase concentration, Retinal pigment epithelial mottli...	OMIM:618733
Xq28 (MECP2) duplication	Inability to walk, Functional abnormality of the bladder, Gait ataxia, Depression, Progressive sp...	DECIPHER:45
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Clonus, Genu recurv...	OMIM:617301
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
3M Syndrome	Congenital hip dislocation, Micromelia, Hypoplastic ischia, Short neck, Increased vertebral heigh...	ORPHA:2616
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Anemia, ...	ORPHA:3322
Joubert Syndrome 28	Joint laxity, Optic disc pallor, Ataxia, Highly arched eyebrow, Pigmentary retinopathy, Oculomoto...	OMIM:617121
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Coxa vara, Hernia, Abnormality of subcutaneous fat tissue, Osteoma...	ORPHA:1901
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Renal tubular dysfunction, Glycosur...	ORPHA:411629
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Pectus excavatum, Metatars...	OMIM:227330
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Single transverse palmar c...	ORPHA:521426
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, C...	OMIM:608940
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Vesicoureteral reflux, Joint laxity, Osteoporosis, Myoclonus, Scoliosis, Uterine prol...	ORPHA:438213
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Kearns-Sayre Syndrome	Sideroblastic anemia, Ataxia, Renal tubular acidosis, Pigmentary retinopathy, Renal Fanconi syndr...	OMIM:530000
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Trisomy 13	Abnormal eyelash morphology, Kyphosis, Postaxial hand polydactyly, Abnormal retinal vascular morp...	ORPHA:3378
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s...	OMIM:253010
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Optic nerve compress...	OMIM:612301
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Grant Syndrome	Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp...	ORPHA:2097
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Unsteady gait, Retinal degeneration, Ptosis	OMIM:520000
Cystic Echinococcosis	Eosinophilia, Abscess, Bone cyst, Renal cyst, Weight loss, Membranous nephropathy, Abnormality of...	ORPHA:400
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Rasmussen Subacute Encephalitis	Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Irritability,...	ORPHA:1929
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Talipes equinovarus, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, Downslante...	OMIM:617333
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Impaired T cell function, Tremor, Splenomegaly, Paronychia, Emotional lability, Irritabil...	OMIM:201100
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Hypoalbuminemia, Joint laxity, Ataxia, Osteoporosis, Nep...	ORPHA:79318
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:606002
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Hypophosphatemic Bone Disease	Rickets, Hypophosphatemia, Osteomalacia, Bowing of the legs	OMIM:146350
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ...	ORPHA:79431
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Frontal balding, Renal salt wasting, Accelera...	ORPHA:90794
Melnick-Needles Syndrome	Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-s...	ORPHA:2484
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Missing ribs, Short neck, ...	ORPHA:1834
Prader-Willi Syndrome	Osteopenia, Short palm, Micropenis, Hypopigmentation of the skin, Iris hypopigmentation, Syndacty...	OMIM:176270
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ...	OMIM:618986
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Renal insufficiency, Bone spicule pigmentation ...	OMIM:615986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Anorexia, Hepatosplenomegaly, Increased circulatin...	ORPHA:169160
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Abnormal enchondral ossification, Short neck, Short thorax, Abnormal ...	ORPHA:93298
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte...	OMIM:204100
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Long eyelashes, Increased circulating IgE level	OMIM:616069
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Glomerulonephritis, Perianal abscess, Hemolytic-uremic syn...	ORPHA:2968
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Trisomy 18	Omphalocele, Abnormality of retinal pigmentation, Epicanthus, Camptodactyly of finger, Cachexia, ...	ORPHA:3380
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Alopecia, Thin bony cortex, Rickets of the lower limbs, Bulging epiphys...	OMIM:600785
Peroxisome Biogenesis Disorder 5B	Joint laxity, Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Elevated circulating phytanic aci...	OMIM:614867
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Single transverse palmar crease, Clonus, Synophrys, Abnormal curvature of the vertebra...	OMIM:619475
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairli...	OMIM:619488
Cogan Syndrome	Thrombocytosis, Leukocytosis, Conjunctivitis, Anemia	ORPHA:1467
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Ataxia, Supernumerary nipple, Hemiplegia/hemiparesis, Optic ...	ORPHA:1173
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ...	ORPHA:846
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Pancytopenia, Hyperactivity, Sandal gap, Abnormal finger flexi...	OMIM:210600
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
48,Xxxy Syndrome	Hypoplasia of penis, Short neck, Tremor, Clinodactyly of the 5th finger, Abnormal dental enamel m...	ORPHA:96263
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Hypertrichosis, Spotty hypopigmen...	OMIM:210900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Epicanthus, Telecanthus, Abnormal hemoglobin, Joint stiffness, Flexion contr...	ORPHA:847
Chops Syndrome	Curly hair, Thick hair, Tracheomalacia, Splenomegaly, Synophrys, Optic atrophy, Obesity, Horsesho...	OMIM:616368
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Short neck, Short metatarsal, Renal cyst, Macular degeneration,...	OMIM:266920
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr...	OMIM:233910
Wiedemann-Rautenstrauch Syndrome	Short neck, Flexion contracture, Hypertonia, Hypoplasia of the thymus, Narrow chest, Intention tr...	OMIM:264090
Joubert Syndrome 3	Epicanthus, Ataxia, Retinal dystrophy, Highly arched eyebrow, Stage 5 chronic kidney disease, Pig...	OMIM:608629
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chorioretinal dysplasia, Abnormal eyelid morphology, Hypertonia, Abnormal optic nerve morphology,...	ORPHA:2526
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Vici Syndrome	Decreased circulating IgG level, Abnormality of retinal pigmentation, Joint stiffness, Optic atro...	ORPHA:1493
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Flexion contracture, Low frustration tolerance, Micropenis, Hyperactivity, Large hands, Patchy al...	OMIM:300534
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Drusen, Paraproteinemia, El...	ORPHA:329918
Leptospirosis	Papilledema, Anorexia, Cellular urinary casts, Retinal hemorrhage, Chorioretinitis, Hyperproteine...	ORPHA:509
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Obesity, Hemivertebrae, A...	ORPHA:2180
Immunodeficiency 22	Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Retinal vascul...	OMIM:615758
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Congenital hip dislocation, Pectu...	ORPHA:2970
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Hypospadias, Kyphoscoliosis, Coxa valga, Tapered finger, Abnormal repetitive manneris...	OMIM:301040
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Hand muscle weakness, Tremor, Tongue tremor, Hypertonia, Proximal muscle we...	ORPHA:466768
Parkinson Disease 14, Autosomal Recessive	Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel...	OMIM:612953
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Spastic tetraplegia, ...	OMIM:617710
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tr...	OMIM:251100
Okur-Chung Neurodevelopmental Syndrome	Single transverse palmar crease, Synophrys, Clinodactyly of the 5th finger, Decreased circulating...	OMIM:617062
Prolidase Deficiency	Hyperimidodipeptiduria, Splenomegaly, Low posterior hairline, Anemia, Increased circulating antib...	OMIM:170100
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Increased body weight, Chorioretinal hypopigmentation, Compulsiv...	ORPHA:398069
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Brittle hair, Increased circulating IgA level, Hypertonia, Neutropenia, Tiger tail b...	OMIM:616395
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty...	ORPHA:999
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive	OMIM:211600
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteoscl...	OMIM:122860
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Horseshoe kidney, Depi...	ORPHA:1724
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Joint stiffness, Tremor, Shuff...	ORPHA:209335
Gm1-Gangliosidosis, Type I	Inguinal hernia, Thickened ribs, Joint stiffness, Short neck, Splenomegaly, Kyphosis, Vacuolated ...	OMIM:230500
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
White Forelock With Malformations	Finger syndactyly, Epicanthus, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperf...	ORPHA:2475
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Oral-pharyngeal dysphagia, Tremor, Short neck, Synophrys, Prominent protruding coccyx...	OMIM:300966
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib...	OMIM:612286
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinus calcaneus, Babinski sign, Pigmentary retinopathy, Tip-toe g...	ORPHA:746
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Flex...	OMIM:609541
Igg4-Related Ophthalmic Disease	Palpebral edema, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive ...	ORPHA:449563
Fibrochondrogenesis 1	Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5...	OMIM:228520
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, Palmoplantar hyperkeratosis, Shallow orbits, Sparse hair, Decrea...	OMIM:619127
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Syndactyly, Broad f...	OMIM:619534
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Short neck, Tremor, Chorea, Low anterior hairline, Micropenis, Joint...	OMIM:601808
Aicardi Syndrome	Retinal detachment, Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Ch...	OMIM:304050
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Pediatric-Onset Graves Disease	Hyperactivity, Craniosynostosis, Abnormal eyelid morphology, Tremor, Splenomegaly, Accelerated sk...	ORPHA:525731
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Splenomegaly, Kyphosis...	ORPHA:583
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U...	OMIM:616108
Sézary Syndrome	Alopecia, Abnormal immunoglobulin level, Tremor, Splenomegaly, Palmoplantar keratoderma, Nail dys...	ORPHA:3162
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal vertebral morphology, Papilledema, Abnormal foveal ...	ORPHA:217093
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign, Mental d...	ORPHA:52368
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ...	OMIM:616084
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ...	OMIM:614072
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Infantile Systemic Hyalinosis	Short palm, Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, J...	ORPHA:2176
Viss Syndrome	Generalized joint laxity, Pectus carinatum, Increased circulating IgG level, Long toe, Joint laxi...	OMIM:619472
Dyskeratosis Congenita, Digenic	Failure to thrive, Alopecia, Sparse eyelashes, Abnormal palmar dermatoglyphics, Bilateral ptosis,...	OMIM:620040
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hypouricemia, Proteinuria, Large for gestational age, Rickets, Nephrocalcinosi...	OMIM:616026
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Hyperlordosis, Delayed skeletal maturation, Limit...	ORPHA:3068
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal vertebral morphology, Papilledema, Abnormal foveal ...	ORPHA:217085
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ...	OMIM:617781
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Short neck, Abnormal rib morphology, Obesity, Hemivertebr...	ORPHA:2234
Dpagt1-Cdg	Tremor, Flexion contracture, Hypertonia, Diffuse optic disc pallor, Arachnodactyly, Ataxia, Osteo...	ORPHA:86309
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P...	OMIM:224690
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Multicystic kidney dysplasia, Craniosynostosis, Congenital diaphragmatic hernia, ...	ORPHA:261197
Cantú Syndrome	Short neck, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, Broad ribs, Gen...	ORPHA:1517
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Hoffmann sign, Dysmetria, Hyperactivity, Ataxia, Confusion,...	ORPHA:139396
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Tongue fasciculations	OMIM:619851
Sandifer Syndrome	Torticollis, Hiatus hernia, Abnormal posturing, Anemia, Decreased cervical spine mobility	ORPHA:71272
Canavan Disease	Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Hypertonia, Cognitive im...	ORPHA:141
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Thrombocytopenia, Abnormal thorax morphology, Reticulocytopenia,...	ORPHA:508542
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip...	OMIM:618395
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Th...	ORPHA:2463
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Cleidocranial Dysplasia	Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku...	ORPHA:1452
Classic Homocystinuria	Sparse scalp hair, Abnormality of retinal pigmentation, Retinal detachment, Arachnodactyly, Recur...	ORPHA:394
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Epicanthus, Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abno...	ORPHA:2759
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp...	OMIM:617156
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Optic atrophy, Spasticity, I...	OMIM:616881
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Wormian bo...	OMIM:166210
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Nephrolithiasis, Hematuri...	ORPHA:2196
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte proliferation, Ab...	ORPHA:99867
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Robinow Syndrome	Hemivertebrae, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Multicystic kidney...	ORPHA:97360
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Dentin...	OMIM:259440
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Thin clavicle...	ORPHA:93324
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp...	ORPHA:2636
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ...	OMIM:616005
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Increa...	OMIM:615846
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver...	OMIM:271520
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ch...	OMIM:617864
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo...	OMIM:301078
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to...	OMIM:602722
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Synophrys, Tracheobronchomalacia, Low anterior hairline,...	OMIM:613458
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Ataxia, Tremor, Brachioradialis areflexia, Flexion contracture, Neutropenia, Opisthot...	OMIM:616271
Wiedemann-Steiner Syndrome	Accelerated skeletal maturation, Synophrys, Low frustration tolerance, Clinodactyly of the 5th fi...	ORPHA:319182
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Craniosynost...	OMIM:252600
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Flexion contracture, Low anterior hairline, Hypoplastic iliac wi...	OMIM:180849
Hardikar Syndrome	Renal insufficiency, Hydroureter, Lacrimal duct stenosis, Thoracolumbar scoliosis, Hypersplenism,...	OMIM:301068
49,Xxxxy Syndrome	Hypoplasia of penis, Short neck, Tremor, Low frustration tolerance, Clinodactyly of the 5th finge...	ORPHA:96264
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Osteoporosis, P...	OMIM:613989
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Pectus excavatum, Spina bifida occulta, Low posterior hairline, Fused ...	OMIM:619227
Den Hoed-De Boer-Voisin Syndrome	Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Overweight, 2-3 toe synd...	OMIM:619229
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Hyperlysinemia	Tremor, Dysmetria, Opisthotonus, Cystinuria, Hyperactivity, Clumsiness, Hypoornithinemia, Hyperly...	ORPHA:2203
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Almond-shaped palpebral fissure, Small hand, Obesity, Osteo...	ORPHA:398079
Monosomy 18Q	Epicanthus, Arachnodactyly, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Tapered finger, Pect...	ORPHA:1600
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Small for gestational age, Abnormal T cell morphology, Nephrotic syndrome, Mucopolys...	OMIM:215250
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci...	OMIM:616100
Occipital Horn Syndrome	Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca...	OMIM:304150
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Lowry-Wood Syndrome	Small for gestational age, Squared iliac bones, Elbow flexion contracture, Hip dislocation, Multi...	OMIM:226960
Familial Congenital Mirror Movements	Poor fine motor coordination, Fused cervical vertebrae, Cerebral palsy, Clumsiness	ORPHA:238722
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Hypoplastic toenails, Clinodactyly of the 5th finger, Absent eyebrow, ...	ORPHA:544488
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology, Limitation of...	ORPHA:1486
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis	OMIM:144200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Flexion contracture, Femoral bowing, Narrow chest, Vesicour...	ORPHA:95699
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Delayed skeletal maturation, Polyphagia, Obesity, Red hair, Failure to ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Delayed skeletal maturation, Polyphagia, Obesity, Red hair, Failure to ...	ORPHA:71526
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Pectus exca...	OMIM:263750
Mulibrey Nanism	Thickened cortex of long bones, Pigmentary retinopathy, Enamel hypoplasia, Single transverse palm...	OMIM:253250
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ...	ORPHA:2311
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Ptosis, Abnormality of retinal pigmentation, Cachexia, Anorexia, Pectus excava...	ORPHA:1969
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, In...	ORPHA:634
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Pectus excavatum, Delayed skel...	ORPHA:369837
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Joint stiffness, Kyphosis, Optic atroph...	ORPHA:2510
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Abnormal enchondral ossi...	ORPHA:93299
12Q14 Microdeletion Syndrome	Hyperpigmentation of the skin, Ectopic kidney, Tremor, Abnormality of the spleen, Synophrys, Oste...	ORPHA:94063
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Splenomegaly...	ORPHA:3035
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Short...	ORPHA:1264
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Vertebral Hypersegmentation And Orofacial Anomalies	Epicanthus, Scapular winging, Inguinal hernia, Supernumerary nipple, Pectus excavatum, Widow's pe...	OMIM:619122
Neonatal Adrenoleukodystrophy	Ptosis, Optic atrophy, Abnormality of retinal pigmentation, Bilateral single transverse palmar cr...	ORPHA:44
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Conjunctivitis, Decreased circulating IgG level, Partial ...	OMIM:240500
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Arachnodactyly, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone min...	ORPHA:2720
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Thin ri...	ORPHA:169189
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Spasticity, Babinski sign, Abnormal pyramidal sign	ORPHA:397951
Chilblain Lupus	Finger swelling, Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Vitiligo, Decreased proportion of CD3-positive T cells, Decreased circulating ...	ORPHA:275
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature ...	OMIM:193500
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Ab...	ORPHA:818
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Pectus excavatum, White hair, Fine hair, Agammaglobulinemia, Reduced bone minera...	ORPHA:935
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Blepharophimosis, Spastic gait, Hyperconvex thumb nails, Pectus c...	ORPHA:3079
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Rigidity, Splenomegaly, Truncal ataxia, Bradykines...	ORPHA:309854
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee...	OMIM:601559
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Congeni...	OMIM:122470
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Single transverse palmar crease, Large for gestational age, ...	ORPHA:96334
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Micropenis, Decreased skull ossification, Slender long bo...	OMIM:602361
Septopreoptic Holoprosencephaly	Short attention span, Impulsivity, Abnormal rib morphology, Dysphagia, Abnormal vertebral morphology	ORPHA:280195
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ...	OMIM:150550
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Bra...	OMIM:600151
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hyperactivity, Hypospadias, Large for gestational age, Hypopigmented skin patches, Ga...	ORPHA:457485
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern...	ORPHA:1488
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Nephrocalcinosis, Shor...	OMIM:615633
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Multiple small medullary renal cysts, Abnormal rib ...	OMIM:118450
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Short metatarsal, Low anterior hairline, Finger cl...	OMIM:617137
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Shal...	ORPHA:576
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li...	OMIM:608643
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Coxa valga, Blepharophimosis, Long ...	OMIM:608149
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,...	ORPHA:79102
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Bone pain, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic ri...	OMIM:612089
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Absent platelet dense granules, Epicanthus, Fair hair, Decreased ...	OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Broad ribs, Hypopigmentation of the skin, Abnormal repetitive mannerisms, Broad metaca...	OMIM:301066
Hallermann-Streiff Syndrome	Metaphyseal widening, Choreoathetosis, Chorioretinal coloboma, Sparse hair, Hyperactivity, Hyperl...	OMIM:234100
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hemiplegia/hemiparesis	ORPHA:65
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Angelman Syndrome	Tremor, Hypopigmentation of the skin, Iris hypopigmentation, Hyperactivity, Ataxia, Tongue thrust...	ORPHA:72
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Confusion, Tremor, Hemolytic-uremic syndrome, Schistocytosis, Eleva...	OMIM:274150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, T lymphocytopenia, Increased circulating IgM level, Failure to thrive, Reduced natura...	OMIM:242860
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,...	OMIM:224300
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,...	OMIM:308300
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ...	ORPHA:280
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va...	OMIM:250420
Brittle Cornea Syndrome	Hallux valgus, Retinal detachment, Arachnodactyly, Osteoporosis, Abnormality of hair pigmentation...	ORPHA:90354
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Hypospadias, Optic nerve hypoplasia, Missing ribs, Rib fus...	OMIM:206900
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Abno...	ORPHA:320406
Cranioectodermal Dysplasia 2	Unilateral ptosis, Short neck, Renal cyst, Narrow chest, Sparse hair, Joint laxity, Syndactyly, R...	OMIM:613610
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Bone Marrow Failure Syndrome 4	Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity...	OMIM:618116
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Hypertonia, Lethargy, At...	ORPHA:254892
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Downslanted palpebral fissures, H...	ORPHA:195
Asparagine Synthetase Deficiency	Exaggerated startle response, Clonus, Optic nerve hypoplasia, Tremor, Spastic tetraplegia, Irrita...	OMIM:615574
Becker Nevus Syndrome	Lipoatrophy, Hypermelanotic macule, Micromelia, Supernumerary nipple, Pectus excavatum, Kyphosis,...	ORPHA:64755
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal...	ORPHA:2876
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Short neck, Low posterior hairline	ORPHA:3456
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Abnormal eyelash morphology, Optic atrophy, Hypertonia, Scol...	ORPHA:2518
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Opisthotonus, Tibia...	OMIM:269150
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Athetosis, ...	ORPHA:52503
Neu-Laxova Syndrome	Osteopenia, Abnormal nasolacrimal system morphology, Osteomalacia, Micromelia, Abnormal eyelid mo...	ORPHA:2671
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Narrow chest...	OMIM:613848
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Craniosynostosis, Abnormality of the urethra, Split hand, Abnormal...	ORPHA:2145
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Bone pain, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem...	ORPHA:3337
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Desmoid Tumor	Abnormality of retinal pigmentation, Limitation of joint mobility, Osteolysis, Hydronephrosis	ORPHA:873
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Progressive neurologic deterioration, Large for gestational age, Tremor, Abnormal ci...	ORPHA:263455
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Ataxia, Genu recurvatum, Palmoplantar keratoderma, Gait dist...	ORPHA:578
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ...	ORPHA:125
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Polydactyly, Rod-cone dys...	OMIM:613464
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Gapo Syndrome	Abnormal clavicle morphology, Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early ...	ORPHA:2067
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Epicanthus, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyp...	OMIM:618056
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei	OMIM:615578
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Shallow orbits, Short...	OMIM:601812
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Overlapping fingers, Micropenis, Abnormal natural killer ce...	OMIM:615966
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Avascular necrosi...	ORPHA:1775
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Accelerated skeletal maturation, Renal cyst, Pectus carinatum, V...	OMIM:312870
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Codas Syndrome	Epicanthus, Short metacarpal, Hydroureter, Brachydactyly, Congenital hip dislocation, Abnormal de...	ORPHA:1458
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Fibrochondrogenesis	Omphalocele, Hypoplastic fingernail, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, S...	ORPHA:2021
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Agammaglobulinemia, X-Linked	Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea...	OMIM:300755
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ptosis, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, ...	ORPHA:1647
Gaucher Disease Type 3	Pancytopenia, Increased bone mineral density, Proteinuria, Ataxia, Splenomegaly, Delayed skeletal...	ORPHA:77261
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Rod-cone dystrophy, Chorea, Low plasma citrulline, Optic atrophy, Lacticaciduria, Dysphag...	ORPHA:255210
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Smal...	OMIM:616229
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Almond-shaped palpebral fissure,...	ORPHA:98793
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Ataxia, Elevated circulating creatine kinase concentration, Hyperl...	OMIM:615356
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Osteoporosis, Nephrolithiasis, Renal cyst, W...	ORPHA:143
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Almond-shaped palpebral fissure,...	ORPHA:177904
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, O...	ORPHA:411511
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Renal tubular dysfunction, Ir...	OMIM:616539
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C...	ORPHA:79345
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Epicanthus, Hypopigmentation of hair, Single transverse palmar crease, Splenomegaly, Osteopetrosi...	OMIM:618541
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Arachnodactyly, Scoliosis	ORPHA:171844
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Small for gestational age, Almond-shaped palpebral fissure,...	ORPHA:177901
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Shall...	OMIM:182212
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Optic disc pallor, Tre...	OMIM:615512
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Micropenis, Retinal...	OMIM:209900
Sandhoff Disease	Exaggerated startle response, Ataxia, Urinary incontinence, Progressive psychomotor deterioration...	OMIM:268800
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal form of the vertebral bodies, Abnormal thorax morphology, Metaphyseal widening, Dysphagi...	ORPHA:73230
O'Sullivan-Mcleod Syndrome	Eosinophilia, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Increased circulating ...	ORPHA:99965
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Arnold-Chiari Malformation Type I	Stiff neck, Urinary incontinence, Areflexia of upper limbs, Babinski sign, Vocal cord paralysis, ...	ORPHA:268882
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,...	OMIM:614748
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Almond-shaped palpebral fissure,...	ORPHA:98754
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p...	ORPHA:331235
Congenital Disorder Of Glycosylation, Type Iib	Thoracic scoliosis, Recurrent fractures, Blepharophimosis, Optic atrophy, Decreased circulating a...	OMIM:606056
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Weight...	ORPHA:420741
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Spasticity, Restlessness	OMIM:619517
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Sparse eyebrow, Osteoporos...	OMIM:614008
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Am...	OMIM:615605
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacr...	ORPHA:79078
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubul...	ORPHA:85184
Legius Syndrome	Short attention span, Inguinal freckling, Hyperactivity, Acute monocytic leukemia, Axillary freck...	ORPHA:137605
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Pontine Tegmental Cap Dysplasia	Ataxia, Head titubation, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Dysphagia...	OMIM:614688
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Epicanthus, Short neck, Pigmentary retinopathy, Downslanted palpebr...	OMIM:614230
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Tremor, Hypo...	ORPHA:904
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Vesicoureteral reflux, Joint laxity, Delayed sk...	OMIM:157800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Dysm...	ORPHA:96121
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibi...	ORPHA:2772
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of...	ORPHA:1507
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Femora...	OMIM:617022
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Prader-Willi Syndrome Due To Translocation	Short neck, Compulsive behaviors, Clinodactyly of the 5th finger, Hypopigmentation of the skin, A...	ORPHA:177907
Inflammatory Skin And Bowel Disease, Neonatal, 1	Paronychia, Increased circulating IgE level, Failure to thrive, Blepharitis, Onychogryposis	OMIM:614328
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr...	OMIM:203500
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi...	OMIM:618598
Alexander Disease	Osteopenia, Ataxia, Clonus, Short neck, Tremor, Hyperlordosis, Chorea, Kyphosis, Abnormal pyramid...	ORPHA:58
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior hairline, Vertebral segmentati...	ORPHA:2578
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Fa...	ORPHA:5
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Clinodactyly of the 5th finger, Abnor...	ORPHA:1606
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypoplastic toenails, Synophrys, Vesicoureteral reflux, Abnormal toenail morphology, Abnormal ver...	ORPHA:444077
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Hypopl...	OMIM:306955
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac...	OMIM:259420
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Asplenia, Keratoconjunctivitis, Nephrocalcinosis, Pigmentary retinopathy, Perifoveal ri...	OMIM:240300
Stiff Person Spectrum Disorder	Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Falls, Difficulty walking, Emotiona...	ORPHA:3198
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Vesicoureteral re...	ORPHA:96061
Brittle Cornea Syndrome 1	Joint laxity, Epicanthus, Congenital hip dislocation, Red hair, Atypical scarring of skin, Scolio...	OMIM:229200
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Hypoalbu...	ORPHA:75565
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexi...	OMIM:620369
Aicardi-Goutières Syndrome	Multiple joint contractures, Tremor, Abnormal pyramidal sign, Increased circulating interferon-ga...	ORPHA:51
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep...	OMIM:145350
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Painless fractures due to injury, Avascular necrosis, Self-mutilation, Nail-biting, Hy...	ORPHA:642
Alagille Syndrome	Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormality of the ...	ORPHA:52
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Primary Sjögren Syndrome	Normocytic anemia, Chorea, Leukopenia, Tubulointerstitial nephritis, Decreased circulating comple...	ORPHA:289390
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Inguinal hernia, Highly arched eyebrow...	ORPHA:1454
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Cerebrofaciothoracic Dysplasia	Epicanthus, Abnormal hair pattern, Short neck, Synophrys, Rib fusion, Hemivertebrae, Low posterio...	ORPHA:1394
Trichinellosis	Confusion, Babinski sign, Increased circulating IgE level, Central retinal artery occlusion, Reti...	ORPHA:863
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co...	ORPHA:958
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Tremor, Synophrys, Narrow chest, Proportionate shortening of all digits, Tapered fing...	ORPHA:280633
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Vocal cord paralysis, Renal cyst, Tibial bowing, Hypert...	ORPHA:798
Renal Tubular Acidosis Iii	Osteomalacia, Periodic paralysis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Ri...	OMIM:267200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph...	OMIM:208500
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Monosomy 9Q22.3	Epicanthus, Hyperactivity, Large for gestational age, Pectus excavatum, Palmar pits, Short neck, ...	ORPHA:77301
Gabriele-De Vries Syndrome	Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Tremor, Long fingers, Sparse eyebrow, Epib...	OMIM:617557
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Acute Intermittent Porphyria	Hyponatremia, Proximal muscle weakness in upper limbs, Renal insufficiency, Dark urine, Restlessn...	ORPHA:79276
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Nonketot...	ORPHA:1300
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Fingernail dysplasia, Ptosis	ORPHA:1259
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Osteoporosis, Nephrolithiasis, Renal cyst, H...	ORPHA:99880
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla...	OMIM:616294
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Mental dete...	ORPHA:240071
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Metaphyseal striations, Bone pain	OMIM:615139
10Q22.3Q23.3 Microduplication Syndrome	Upslanted palpebral fissure, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias	ORPHA:276422
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Dysphagia, Parkinsonism with favorable...	ORPHA:199351
Trichothiodystrophy 1, Photosensitive	Brittle hair, Small for gestational age, Trichoschisis, Flexion contracture, Absence of subcutane...	OMIM:601675
Kikuchi-Fujimoto Disease	Alopecia, Palpebral edema, Ataxia, Elevated circulating C-reactive protein concentration, Anorexi...	ORPHA:50918
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Epicanthus, Exaggerated startle response, Telecanthus, Ataxia, Broad-based ...	ORPHA:438216
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive	OMIM:618201
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Del...	OMIM:612921
Ebola Hemorrhagic Fever	Leukopenia, Increased circulating antibody level, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia	ORPHA:319218
Usher Syndrome	Abnormality of retinal pigmentation, Ataxia, Abnormal dental enamel morphology, Vestibular arefle...	ORPHA:886
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE le...	ORPHA:449432
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho...	ORPHA:2050
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Short toe, Short th...	OMIM:269860
Sclerosteosis 1	Syndactyly, Papilledema, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Optic atroph...	OMIM:269500
Hermansky-Pudlak Syndrome	Renal insufficiency, Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morpholog...	ORPHA:79430
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Inguinal hernia, Hyperactivity, Congenital diaphragmatic hernia, Short neck, P...	OMIM:614294
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, S...	ORPHA:53271
Ellis Van Creveld Syndrome	Micromelia, Hypoplastic toenails, Epispadias, Narrow chest, Abnormality of the nail, Synostosis o...	ORPHA:289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Pigmentar...	OMIM:613154
Immunodeficiency 67	Transient neutropenia, Liver abscess, Increased circulating IgE level	OMIM:607676
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Large for gestational age, Short neck, Abnormal sternum morphology, Sparse hair, J...	OMIM:607721
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Optic atrophy, Ce...	ORPHA:87
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Almond-shaped palpebral fissure, Small hand, Osteoporosis, ...	ORPHA:739
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypopigmentat...	ORPHA:797
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Cutaneous finge...	OMIM:151050
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,...	ORPHA:411527
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,...	ORPHA:99027
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finge...	ORPHA:261344
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Monosomy 9P	Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Synophrys, Hypertonia, ...	ORPHA:261112
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Keratoconjunctivitis si...	ORPHA:309031
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn...	OMIM:600920
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,...	ORPHA:263508
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Granuloma, Increased circulating IgM level, Hyperbilirubinemia	ORPHA:562639
Mend Syndrome	Telecanthus, Hyperactivity, Overlapping toe, Broad hallux, Sacral dimple, Aggressive behavior, Lo...	ORPHA:401973
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bo...	OMIM:620076
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th...	ORPHA:1120
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Cellulitis, Decreased circulating IgA level, Decreased proportio...	OMIM:614878
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Wide cranial sutures, Metaphyseal spurs, Unilateral ren...	OMIM:618188
Acquired Methemoglobinemia	Methemoglobinemia, Confusion	ORPHA:464453
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Vitreous floaters, Nep...	OMIM:619698
Obesity And Hypopigmentation	Red hair, Polyphagia, Obesity	OMIM:620195
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, Postaxial polydactyly, Obesity, Renal cyst, Pigmentary retinopathy, Rod-...	OMIM:605231
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hypoglutaminemia, Ataxia, Elevat...	ORPHA:3008
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Delayed skeletal maturation...	ORPHA:391487
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Le...	ORPHA:469
Spastic Paraplegia 9A, Autosomal Dominant	Resting tremor, Lower limb spasticity, Urinary incontinence, Hiatus hernia, Delayed skeletal matu...	OMIM:601162
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Optic atrophy, Spasti...	OMIM:617281
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Conj...	OMIM:601495
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Yellow Fever	Low back pain, Increased circulating interleukin 6 concentration, Neutrophilia, Anuria, Elevated ...	ORPHA:99829
Joubert Syndrome 8	Optic disc pallor, Ataxia, Obesity, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Ptosis	OMIM:612291
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Wei...	ORPHA:2221
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Obesity, Reduced bone mineral den...	ORPHA:2235
Xylt1-Cdg	Joint laxity, Joint dislocation, Coxa valga, Accelerated skeletal maturation, Synophrys, Flared m...	ORPHA:370930
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Vocal cord paralysis, Abnormality of the ocular adnexa, Hypocal...	ORPHA:64744
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology...	ORPHA:2908
Myhre Syndrome	Abnormal penis morphology, Ptosis, Craniofacial hyperostosis, Inguinal hernia, Hypospadias, Femor...	ORPHA:2588
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Delayed skeletal maturation, Increased circulating IgE level	OMIM:618985
Niemann-Pick Disease Type C	Bone-marrow foam cells, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal ...	ORPHA:646
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Sacral dimple, Hypospadias, Abnor...	ORPHA:2556
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci...	OMIM:104200
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand,...	OMIM:200980
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Clinodactyly, Flexion contracture, Micropenis, Abnormal repetitive mannerisms, Hyperactivity, Hyp...	OMIM:309590
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy, Broad palm	OMIM:268020
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Brady...	OMIM:137440
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Hyperphosphaturia, Failure to thrive in infancy, Osteomalacia, Choroidal...	ORPHA:51608
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodeficiency 68	Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count	OMIM:612260
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Decreased body ...	OMIM:618265
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly, Myoclonus, Cherry red spot of the macula, Spast...	ORPHA:309155
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Multiple lipomas	ORPHA:122
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Fibular hypoplasia, Flat acetabu...	OMIM:600002
Sotos Syndrome	Ureteral duplication, Accelerated skeletal maturation, Tremor, Flexion contracture, Vesicouretera...	ORPHA:821
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Ptosis, Epicanthus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, ...	OMIM:225400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Q Fever	Osteomyelitis, Anorexia, Splenomegaly, Weight loss, Anemia, Hepatosplenomegaly, Hematuria, Granul...	ORPHA:781
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes...	ORPHA:1873
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ...	OMIM:620133
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Obesity, Hyperbilirubinemia, Red hair, Polyphagia	OMIM:609734
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, A...	ORPHA:887
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Fryns Syndrome	Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Large for ges...	OMIM:229850
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Pneumocystosis	Weight loss, Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Heimler Syndrome 1	Retinal pigment epithelial mottling, Leukonychia, Beau's lines, Macular dystrophy, Enamel hypopla...	OMIM:234580
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Charge Syndrome	Abnormal palmar dermatoglyphics, Hemivertebrae, Hand monodactyly, Hypocalcemia, Micropenis, Self-...	OMIM:214800
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Ptosis	ORPHA:1067
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor...	ORPHA:508488
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle...	OMIM:617895
Menkes Disease	Chorea, Hypertonia, Narrow chest, Hernia, Sparse hair, Osteoporosis, Joint hyperflexibility, Umbi...	ORPHA:565
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Sclerosis o...	OMIM:269300
Osteopathia Striata With Cranial Sclerosis	Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, Broad ribs, Spi...	OMIM:300373
Zttk Syndrome	Flexion contracture, Hemivertebrae, Sparse eyebrow, Rib fusion, Scoliosis, Curly hair, Unilateral...	OMIM:617140
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Hemiplegia/hemiparesis	ORPHA:1496
Hypophosphatasia, Adult	Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P...	OMIM:146300
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia...	ORPHA:1318
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T...	ORPHA:163966
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Listeriosis	Back pain, Brain abscess, Liver abscess, Ataxia, Abscess, Stiff neck, Osteomyelitis, Tremor, Abno...	ORPHA:533
Pseudo-Torch Syndrome 2	Lethargy, Abnormal renal corticomedullary differentiation, Thrombocytopenia, Thin ribs	OMIM:617397
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Hypoplastic toenails, ...	OMIM:619522
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Horsesho...	ORPHA:3109
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm...	ORPHA:98795
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Upslanted palpebral fissure, Long pal...	ORPHA:1780
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Pallister-Hall Syndrome	Decreased circulating cortisol level, Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Dist...	OMIM:146510
Congenital Ptosis	Anhidrosis, Cafe-au-lait spot, Piebaldism, Long eyelashes	ORPHA:91411
Orofaciodigital Syndrome Type 1	Brittle hair, Tremor, Reduced bone mineral density, Coarse hair, Clinodactyly of the 5th finger, ...	ORPHA:2750
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Rickets, Stage 5...	OMIM:268315
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs,...	ORPHA:3301
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Pectus excavatum, 2-3 toe syndactyly...	OMIM:618162
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Hydronephrosis, Lim...	OMIM:620327
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Rod...	OMIM:260920
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Sparse eyebrow, Squared il...	OMIM:616300
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re...	OMIM:193220
Postinfectious Vasculitis	Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria...	ORPHA:48435
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Epicanthus, Inguinal hernia, Overlapping toe, Single transverse palmar cr...	ORPHA:254528
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Kyphoscoliosis, Large for gestational age, Coxa valga, Short neck, ...	ORPHA:254519
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hemivertebrae, Decreased circulating IgG level, Lumbar hyperlordosis, Arachnodactyly, Sagittal cr...	ORPHA:500150
Severe Congenital Nemaline Myopathy	Hypospadias, Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology...	ORPHA:171430
Cysticercosis	Abnormal optic chiasm morphology, Retinal detachment, Stiff neck, Ataxia, Confusion, Memory impai...	ORPHA:1560
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Anorexia, Optic neuropathy, Splenomegaly, Bone cy...	OMIM:181000
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Abnormality of the vertebral ...	OMIM:601076
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Pyoderma Gangrenosum	Atrophic scars, Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48104
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Flexion contracture, Abnormal pyramidal sign, Thin ribs, Decreased body w...	OMIM:614833
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Parkinsonism, Tremor, Limb pain, Increased circulating antibody...	ORPHA:83600
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias	OMIM:250790
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Ataxia, Splenomegaly, Abnorma...	ORPHA:163746
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Tremor, Finger joint hypermobility, Waddling gait, Sydney crease, Spar...	ORPHA:506358
Hyperekplexia 1	Exaggerated startle response, Inguinal hernia, Hip dislocation, Hypertonia, Myoclonus, Umbilical ...	OMIM:149400
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Short neck, Delayed skeletal maturation, Sm...	ORPHA:488434
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed skeletal maturation, Conjunctivitis, Absent circulating B cells, Septic arthritis, Panhyp...	OMIM:307200
Charge Syndrome	Ptosis, Epicanthus, Highly arched eyebrow, Abnormal tibia morphology, Abnormal rib morphology, Ve...	ORPHA:138
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Delirium, Papilledema, Alopecia, A...	ORPHA:3385
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Hand tremor, Dysmetria, Gait ataxia, Short palm, Abnormal repetitiv...	OMIM:614756
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Hypertonia, Dementia, Cherry red spot of...	OMIM:272800
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Micropenis, Dysplastic sacrum, Hu...	OMIM:134780
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal matur...	OMIM:608328
Retinitis Pigmentosa 46	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:612572
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Hy...	ORPHA:3214
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Supernumerary nipple, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal s...	ORPHA:2519
Oculopharyngodistal Myopathy 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Bilateral ptosis, Weight loss...	OMIM:164310
Fetal Akinesia Deformation Sequence 1	Ptosis, Telecanthus, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, ...	OMIM:208150
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Synophrys, Polyphagia, Clinodactyly of the 5th finger, Self-mutilation, Oppositio...	OMIM:607872
Ellis-Van Creveld Syndrome	Hypospadias, Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadi...	OMIM:225500
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic...	OMIM:617925
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, ...	OMIM:263520
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad palm, Spinal canal stenosis, Scoli...	OMIM:277600
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis, Decreased circulating total IgM, Decreased circulating IgG level...	OMIM:615577
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Telecanthus, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow...	ORPHA:1974
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Short humerus, Anomalous rib insertion to vertebrae,...	OMIM:117650
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614618
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Epiblepharon, Irritabil...	OMIM:618367
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin...	ORPHA:3440
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Thin bony cortex, Optic neuropathy, Increased intervertebral s...	OMIM:619727
Elsahy-Waters Syndrome	Thick eyebrow, Hypospadias, Pectus excavatum, Synophrys, Shortening of all phalanges of fingers, ...	OMIM:211380
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614619
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E...	ORPHA:2554
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Retinal pigment epithelial mottling, Rickets, Stage 5 chronic kidney disease, Retino...	OMIM:219900
Radio-Renal Syndrome	Multicystic kidney dysplasia, Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morp...	ORPHA:3015
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Nephrotic syndrome, Keratoconjun...	ORPHA:238468
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Hypertonia	ORPHA:163985
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Ataxia, Pigmentary retinopathy	OMIM:610651
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Partial development of the penile shaft, Tongue fasciculations	OMIM:608800
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement...	OMIM:261540
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Sparse hair, Decreased skull ossif...	ORPHA:1662
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Dextrocardia	Congenital hip dislocation, Abnormality of the spleen, Abnormality of the ureter, Abnormal rib mo...	ORPHA:1666
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Horseshoe kidney, Ap...	OMIM:617088
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Ramon Syndrome	Optic disc pallor, Kyphosis, Pigmentary retinopathy, Scoliosis, Decreased body weight, Juvenile r...	OMIM:266270
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral ...	ORPHA:857
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Pallister-Hall Syndrome	Large for gestational age, Ectopic kidney, Hemivertebrae, Micropenis, Paroxysmal bursts of laught...	ORPHA:672
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Penoscrota...	ORPHA:456328
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Polydactyly, Rod-cone dystrophy	OMIM:616562
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Block vertebrae, Ectopic kidney, Blepharophimosis, Limbal dermoid, ...	OMIM:164210
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Decreased circulating total IgM, Arthritis, Rheumatoid arthritis, Decreased circul...	ORPHA:183675
Myotubular Myopathy With Abnormal Genital Development	Hypospadias, Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Joint hypermobility	OMIM:300219
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Vater/Vacterl Association	Syndactyly, Hypospadias, Ectopic kidney, Absent radius, Short thumb, Hypoplasia of the radius, Pr...	OMIM:192350
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,...	OMIM:613843
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi...	ORPHA:254534
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Short 5th finger, Decreased circulating IgA level, Decreased circula...	ORPHA:1951
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, ...	ORPHA:3404
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Single transverse palmar crease, Congenital diaphragmatic hernia, Pigmentary retinop...	OMIM:309801
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Congenital diaphragmatic...	ORPHA:991
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505

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 Mysm1

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 Mysm1.

There are 27 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Deubiquitinase catalytic activity of MYSM1 is essential in vivo for hematopoiesis and immune cell development.	Scientific reports (January 2023)	Mysm1^{tm1c(KOMP)Wtsi} Mysm1^{tm1a(KOMP)Wtsi}	PMC9825392
MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction.	JCI insight (July 2020)	Mysm1^{tm1a(KOMP)Wtsi}	PMC7406308
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Mysm1^{tm1a(KOMP)Wtsi}	PMC7263671
Interaction of Deubiquitinase 2A-DUB/MYSM1 with DNA Repair and Replication Factors.	International journal of molecular sciences (May 2020)	Mysm1^{tm1a(KOMP)Wtsi}	PMC7312997
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Mysm1^{tm1a(KOMP)Wtsi} Mysm1^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Mysm1^{tm1a(KOMP)Wtsi} Mysm1^{tm1a(KOMP)Wtsi}	PMC6459510
The deubiquitinase MYSM1 dampens NOD2-mediated inflammation and tissue damage by inactivating the RIP2 complex.	Nature communications (November 2018)	Mysm1^{tm1a(KOMP)Wtsi}	PMC6220254
2A-DUB/Mysm1 Regulates Epidermal Development in Part by Suppressing p53-Mediated Programs.	International journal of molecular sciences (February 2018)	Mysm1^{tm1a(Komp)Wtsi}	PMC5877548
Loss of p53 compensates osteopenia in murine Mysm1 deficiency.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (January 2018)	Mysm1^{tm1a(KOMP)Wtsi}	29203593
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Mysm1^{tm1a(KOMP)Wtsi}	PMC5827107
MYSM1/2A-DUB is an epigenetic regulator in human melanoma and contributes to tumor cell growth.	Oncotarget (June 2017)	Mysm1^{tm1a(KOMP)Wtsi}	PMC5620173
A role for the histone H2A deubiquitinase MYSM1 in maintenance of CD8+ T cells.	Immunology (February 2017)	Mysm1^{tm1c(KOMP)Wtsi}	28066899
MYSM1-dependent checkpoints in B cell lineage differentiation and B cell-mediated immune response.	Journal of leukocyte biology (November 2016)	Mysm1^{tm1c(KOMP)Wtsi}	27895164
Deubiquitinase MYSM1 Is Essential for Normal Bone Formation and Mesenchymal Stem Cell Differentiation.	Scientific reports (February 2016)	Mysm1^{tm1b(KOMP)Wtsi}	PMC4768166
Repression of p53-target gene Bbc3/PUMA by MYSM1 is essential for the survival of hematopoietic multipotent progenitors and contributes to stem cell maintenance.	Cell death and differentiation (January 2016)	Mysm1^{tm1c(KOMP)Wtsi} Mysm1^{tm1a(KOMP)Wtsi}	PMC4832099
Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes.	Immunity (October 2015)	Mysm1^{tm1b(KOMP)Wtsi}	26474655
Epigenetic Regulation of Antibody Responses by the Histone H2A Deubiquitinase MYSM1.	Scientific reports (September 2015)	Mysm1^{tm1b(KOMP)Wtsi}	PMC4562257
p53 mediates loss of hematopoietic stem cell function and lymphopenia in Mysm1 deficiency.	Blood (February 2015)	Mysm1^{tm1b(KOMP)Wtsi}	25710881
Interplay of H2A deubiquitinase 2A-DUB/Mysm1 and the p19(ARF)/p53 axis in hematopoiesis, early T-cell development and tissue differentiation.	Cell death and differentiation (January 2015)	Mysm1^{tm1a(KOMP)Wtsi}	PMC4532772
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.	PLoS genetics (October 2014)	Mysm1^{tm1a(KOMP)Wtsi}	PMC4207618
Epigenetic control of dendritic cell development and fate determination of common myeloid progenitor by Mysm1.	Blood (September 2014)	Mysm1^{tm1a(KOMP)Wtsi}	PMC4208280
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Mysm1^{tm1a(KOMP)Wtsi}	PMC3996542
Epigenetic control of natural killer cell maturation by histone H2A deubiquitinase, MYSM1.	Proceedings of the National Academy of Sciences of the United States of America (September 2013)	Mysm1^{tm1a(KOMP)Wtsi}	PMC3799335
The control of hematopoietic stem cell maintenance, self-renewal, and differentiation by Mysm1-mediated epigenetic regulation.	Blood (September 2013)	Mysm1^{tm1a(KOMP)Wtsi}	PMC3798996
The critical role of histone H2A-deubiquitinase Mysm1 in hematopoiesis and lymphocyte differentiation.	Blood (December 2011)	Mysm1^{tm1a(KOMP)Wtsi}	22184403
Control of B cell development by the histone H2A deubiquitinase MYSM1.	Immunity (December 2011)	Mysm1^{tm1b(KOMP)Wtsi}	PMC4098839
Optimising experimental design for high-throughput phenotyping in mice: a case study.	Mammalian genome : official journal of the International Mammalian Genome Society (August 2010)	Mysm1^{tm1a(KOMP)Wtsi}	PMC2974211

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Mysm1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Mysm1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Mysm1^{tm355089(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mysm1^{tm36374(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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