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

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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 (1653 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		Bone marrow hypocellularity, Broad clavicles, Rhizomelic arm shortening, Lymphopenia, Leukopenia,...	ORPHA:508542
Bone Marrow Failure Syndrome 4		Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Decreased circulat...	OMIM:618116

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femo...	OMIM:209950
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin...	OMIM:620632
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Chorioretinal coloboma, Lymphopenia, Bilateral single transverse palmar creases, Abnormal hair qu...	ORPHA:1116
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Myoclon...	OMIM:610539
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Mucopolysaccharidosis-Plus Syndrome	Chorioretinal hypopigmentation, Low posterior hairline, Epicanthus, Short neck, Neutropenia, Neph...	OMIM:617303
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia,...	OMIM:152800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Cognitive impairment, Neutropen...	ORPHA:167
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Clinodactyly, Pancytopenia, Macrocytic anem...	ORPHA:2169
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat...	ORPHA:90362
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ia	Rod-cone dystrophy, Ataxia, Nephrotic syndrome, Osteopenia, Dysmetria, Abnormal subcutaneous fat ...	OMIM:212065
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Citrullinemia Type Ii	Abnormal eating behavior, Delirium, Restlessness, Mania, Hypoproteinemia, Memory impairment, Irri...	ORPHA:247585
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Alg12-Cdg	Small nail, Overlapping fingers, Abnormal circulating IgG level, Low posterior hairline, Epicanth...	ORPHA:79324
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody l...	OMIM:226300
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Bone Marrow Failure Syndrome 3	Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Hypomelanotic macule, Her...	OMIM:617052
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Hidrotic Ectodermal Dysplasia	Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse...	ORPHA:189
Shwachman-Diamond Syndrome	Aplastic anemia, Abnormal joint morphology, Pancytopenia, Increased serum bile acid concentration...	ORPHA:811
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ...	OMIM:604416
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Barrel-shaped chest, ...	ORPHA:505248
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Joint stiffness, Nail dystrophy, Increased circulatin...	OMIM:615934
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula...	OMIM:208920
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase...	ORPHA:507
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Epicanthus, Short neck, Cognitive impairment, Abnormal bone...	ORPHA:175
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Failure to thrive, Leukocytosis, Splenomegaly, Nail dystrophy, Elevated circulating creatine kina...	OMIM:615895
Pseudohypoparathyroidism Type 1B	Depression, Hyperphosphatemia, Laryngeal dystonia, Low urinary cyclic AMP response to PTH adminis...	ORPHA:94089
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Barrel-shaped chest, Bowing of the long bones, Hydroxyprolinemia, Osteopenia, ...	OMIM:239000
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Thrombocytopen...	OMIM:615008
Celiac Disease, Susceptibility To, 1	Alopecia, Depression, Rickets, Failure to thrive, Decreased circulating IgA level, Thrombocytosis...	OMIM:212750
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp...	ORPHA:79397
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Polyarticular arthritis, Decreased circulating IgA...	OMIM:619281
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Spl...	OMIM:226990
Alg6-Cdg	Hypoalbuminemia, Failure to thrive, Retinal degeneration, Decreased LDL cholesterol concentration...	ORPHA:79320
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Johanson-Blizzard Syndrome	Hypospadias, Alopecia, Failure to thrive, Delayed skeletal maturation, Absent lacrimal punctum, H...	ORPHA:2315
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Arachnodactyly, Hype...	OMIM:619013
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Neonatal death...	OMIM:608104
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Talipes equinovarus, Rod-cone dystrophy, At...	ORPHA:14
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Clinodactyly, Abnormal circulating IgM...	OMIM:618048
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Omenn Syndrome	Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thromb...	OMIM:603554
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Short toe, Short finger, Low urinary cyclic AMP response to PTH administration...	OMIM:103580
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Short neck,...	ORPHA:79443
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Myoglobinuria, Urinary incontinence, Delirium, Hyperkalemia, Dysphagia, Acute ...	ORPHA:94093
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Long hallux, Narrow vertebral interpedicular distance, Epicanthus, Calvarial h...	OMIM:101800
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis, Polyarticular arthritis, Increased alpha-glo...	OMIM:235900
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Palmoplantar blistering, Abnormal fingernail mo...	ORPHA:89838
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	OMIM:612462
Congenital Amegakaryocytic Thrombocytopenia	Abnormal form of the vertebral bodies, Melanocytic nevus, Abnormal hemoglobin, Decreased skull os...	ORPHA:3319
Trichohepatoenteric Syndrome 1	Cognitive impairment, Curly hair, Brittle hair, Sparse hair, Hypospadias, Galactosuria, Downslant...	OMIM:222470
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Kyphosis, Failure to thrive, Delayed skeletal maturation, Hypocholesterolemia, S...	OMIM:608776
Aicardi-Goutieres Syndrome 9	Spasticity, Hepatosplenomegaly, Weight loss, Glomerular sclerosis, Spastic tetraparesis, Spastic ...	OMIM:619487
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Narrow chest, Hypertrichosis, Downslanted palpebral fissures, Splenomegaly, Hypocalcemia, Inguina...	OMIM:235255
Poems Syndrome	Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Hypertrichosis, Sclerotic vertebral...	ORPHA:2905
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypochromic microcytic anemia, Anorexia, Hypoproteinemia	ORPHA:2494
Reni Syndrome	Hypoalbuminemia, Ataxia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome...	OMIM:617575
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph...	ORPHA:289157
Dengue Fever	Lethargy, Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:603278
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, ...	ORPHA:36913
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Hypomela...	ORPHA:79399
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Depression, Hypocholesterolemia, Abnormal erythrocyte morp...	ORPHA:96180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Elbow contracture, Difficulty walking, Shoulder girdle muscle weakness, Elevated ci...	OMIM:606612
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Short neck,...	ORPHA:79444
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating interleukin 6 concentration, Increased circulating ferritin conc...	OMIM:614034
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia	OMIM:613839
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Thick eyebrow, Radioulnar synos...	ORPHA:3268
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia, Spastic dysarthria	ORPHA:94124
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Narrow chest, Hypertrichosis, Downslanted palpebral fissures, Hepatosplenomegaly, Hypocalcemia, S...	ORPHA:1655
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Delayed skeletal maturation, Clinodactyly of...	OMIM:618347
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Abnormality of connective tissue, Multiple joint contractures, Decreased ...	ORPHA:370968
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Single transverse palmar crease, Aggressive behavior, Hypertonia, Clinodactyly of the 5th...	OMIM:608093
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c...	ORPHA:540
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Epicanthus, Short neck, Acute m...	ORPHA:124
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Delayed cranial suture closure, Epicanthus, Short neck, Small thenar...	OMIM:105650
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Failure to thrive in infancy, Broad-based gait, Hypoalbuminemia	OMIM:618805
Brucellosis	Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephritis, Anorex...	ORPHA:1304
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili...	ORPHA:232
Multiple Myeloma	Nephropathy, Osteopenia, Nephrotic syndrome, Acute kidney injury, Pathologic fracture, Elevated c...	ORPHA:29073
Pantothenate Kinase-Associated Neurodegeneration	Mental deterioration, Spasticity, Acanthocytosis, Limb dystonia, Emotional lability, Loss of ambu...	ORPHA:157850
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Genu valgum, Hypophosphatemia, Genu varum, Abnormal bone structure, Alopecia, Joint...	ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Enamel hypomineralization...	OMIM:307800
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Subacute Inflammatory Demyelinating Polyneuropathy	Limited elbow flexion, Difficulty walking, Limited hip movement, Leukocytosis, Limitation of move...	ORPHA:206594
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Osteopenia, Decreased circulating IgG level, Failure to thrive, Increased circulatin...	ORPHA:98813
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Increased mean corpuscular volume, Short thumb, Horseshoe ...	OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Delayed skeletal maturation, Elevated circulating propion...	OMIM:614857
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Increased mean corpuscular volume, Proximal placement of thumb, Upslanted ...	ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat...	OMIM:127550
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Aceruloplasminemia	Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc...	ORPHA:48818
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Cellulitis, Decreased circulating IgG level, Increased circulating interleukin 6 concentration, C...	OMIM:618944
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Epicanthus, Hypophosphatemia...	OMIM:277440
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Difficulty walking, Hyperbilirubinemia, Renal insufficie...	ORPHA:1667
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,...	OMIM:256300
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Let...	OMIM:277410
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Neonatal hyperbilirubinemia, Alopecia, Delayed skeletal maturation, Long ...	ORPHA:3363
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F...	OMIM:612561
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Optic atrophy, Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia...	OMIM:615688
Beta-Ketothiolase Deficiency	Spasticity, Ketonuria, Anorexia, Thrombocytosis, Leukocytosis, Hyperammonemia, Hyperuricemia, Ora...	ORPHA:134
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein...	ORPHA:2070
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Spasticity, Ketonuria, Anorexia, Leukopenia, Thrombocytosis, Leukocyto...	ORPHA:20
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Broad-based gait, Delayed skeletal maturation, Tiger tail banding, Slow...	OMIM:616943
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ...	OMIM:611590
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypochromic anemia, Failure to thrive, Increased circulating ferritin con...	OMIM:600462
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Renal phosphate wasting, Difficulty walking, Fibular bowing, Hyp...	OMIM:241530
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened...	OMIM:127000
Squalene Synthase Deficiency	Slender long bone, Elevated urine mesaconic acid level, Elbow flexion contracture, Hypocholestero...	OMIM:618156
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Sandhoff Disease, Adult Form	Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat...	ORPHA:309169
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Generalize...	OMIM:264700
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone...	OMIM:618618
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Lipodystrophy, Hy...	ORPHA:86816
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Cachexia, Neutropenia, Tubulointerstitial nephritis, Nephrotic s...	ORPHA:37042
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Irregular h...	ORPHA:89842
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Rickets, B...	OMIM:600081
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Overlapping toe, Low posterior hairline, Epicanthus, Short neck, Beaking of...	OMIM:213980
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Difficulty walking, Tremor, Elevated circulating creatine kinase concentration, H...	OMIM:615048
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Downslanted palpebral fissures, Abnormality of retinal pigmentation, Joint hypermobility, Heteroc...	ORPHA:1390
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Fail...	ORPHA:337
Ring Chromosome 21 Syndrome	Spasticity, Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Narrow ...	ORPHA:1445
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Neutropenia, Ataxia, Spastic tetraparesis, Increased level of L-pyrogluta...	OMIM:266130
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to...	OMIM:613752
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Epicanthus, Short neck, Cognitive impairment, Short foot, Downslan...	ORPHA:915
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ...	ORPHA:158048
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Nephronophthisis	Anemia, Renal insufficiency, Abnormality of retinal pigmentation	ORPHA:655
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Mental deterioration, Postural ...	OMIM:254900
Potocki-Lupski Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Downslanted palpebral fissures, Hypocholesterolemia...	OMIM:610883
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Spasticity, Babinski sign, Scoliosis, Hammertoe, Waddling gait	OMIM:619090
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Proximal muscle weakness in upper limbs, Diffic...	ORPHA:99845
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Head tremor, Gait imbalance, Postural tre...	ORPHA:64753
Dubowitz Syndrome	Aplastic anemia, Epicanthus, Blepharophimosis, Rod-cone dystrophy, Acute lymphoblastic leukemia, ...	OMIM:223370
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Spasticity, Elevated circulating creatine kinase concentration	OMIM:617613
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity, Hypocalcemia, ...	OMIM:603233
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ...	ORPHA:26793
Kbg Syndrome	Persistent open anterior fontanelle, Delayed skeletal maturation, Cervical ribs, Finger clinodact...	ORPHA:2332
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Alopecia, Hypopigmentation of the skin, Palmoplantar keratoderma, Failure to thr...	ORPHA:79396
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Small for gestational age, Depression, M...	ORPHA:330015
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Alopecia, Failure to thrive, Decreased...	ORPHA:169154
Syndromic Diarrhea	Renal hypoplasia, Panhypogammaglobulinemia, Trichorrhexis nodosa, Lymphopenia, Brittle hair, Sple...	ORPHA:84064
Myopathy With Extrapyramidal Signs	Difficulty walking, Epicanthus, Short neck, Hypervalinemia, Clonus, Ataxia, Choreoathetosis, Extr...	OMIM:615673
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walking, Exercise-induced myoglobinuria...	OMIM:607155
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Decreased circulating complement factor B concentration, Alopecia, Hypotriglycer...	ORPHA:2298
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Delayed skeletal maturation, Hypocalcemia, ...	OMIM:241410
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration	OMIM:154276
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt...	OMIM:619774
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4...	ORPHA:443811
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Hypoc...	ORPHA:94090
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Irrita...	ORPHA:292
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Delayed skeletal maturation, Abnormal denta...	ORPHA:2323
Alg1-Cdg	Hypoalbuminemia, Limitation of joint mobility, Renal insufficiency, Nephrotic syndrome, Scoliosis...	ORPHA:79327
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Delayed skeletal maturation, Delayed cranial suture closure, Hypocalcemic teta...	ORPHA:93325
Linear Verrucous Nevus Syndrome	Genu recurvatum, Mental deterioration, Toe syndactyly, Retinopathy, Aplasia/Hypoplasia of the fov...	ORPHA:2611
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Liver Disease, Severe Congenital	Dry hair, Hyperbilirubinemia, Epicanthus, Hypospadias, Hypoproteinemia, Poor fine motor coordinat...	OMIM:619991
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Lymphopenia, Leukopenia, Elevated circulating creatine kina...	ORPHA:454836
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Wilson Disease	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Decreased circulating ceruloplasmi...	OMIM:277900
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Cognitive impairment, Anorexia, Delirium, ...	ORPHA:297
Enterokinase Deficiency	Hypoproteinemia, Failure to thrive	OMIM:226200
Liberfarb Syndrome	Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap...	OMIM:618889
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Osteomyelitis, Elevated circulating creatinine concentrat...	ORPHA:36234
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Cognitive impairmen...	ORPHA:64743
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Obesity	ORPHA:88643
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Genu valgum, Hematuria, Hypophosphatemia, Clonus, Patellar dislocation, Chorioretin...	ORPHA:534
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased ...	ORPHA:247598
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Single ...	OMIM:266510
Autosomal Dominant Hypocalcemia	Optic atrophy, Alopecia, Irregular hyperpigmentation, Hyperphosphatemia, Nephrocalcinosis, Depres...	ORPHA:428
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Tetraparesis, Shoulder girdle muscle weakness, Lumbar hyp...	OMIM:167320
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Increased circulating IgE level, Arthropathy, Eosinophilia, Thorac...	OMIM:618523
Immunodeficiency 23	Scoliosis, Failure to thrive, Increased circulating IgE level, Lymphopenia, Myoclonus, Abscess, J...	OMIM:615816
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, B...	OMIM:235510
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Mildly elevated creatine kinase, Stage 3 ...	OMIM:619743
Cohen Syndrome	Finger syndactyly, Genu valgum, Narrow palm, Arachnodactyly, Neutropenia, Downslanted palpebral f...	ORPHA:193
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Renal insufficiency, Hyponatre...	ORPHA:247353
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ureter, Abnorm...	ORPHA:2522
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Optic atrophy, Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebr...	ORPHA:313892
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Anorexi...	ORPHA:99826
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Action tremor, Cone/cone-rod dystrophy, Lingual dystonia, Optic disc pallor, Generalized aminoaci...	ORPHA:404454
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ...	ORPHA:231226
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Cohen Syndrome	Optic atrophy, Downslanted palpebral fissures, Leukopenia, Bull's eye maculopathy, Genu valgum, L...	OMIM:216550
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Spasticity, Depression, Elevated circulating phytanic acid concentration,...	OMIM:614307
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome	OMIM:614652
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Nephrotic syndrome, Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Spl...	OMIM:603909
Diarrhea 13	Hypoalbuminemia, Failure to thrive	OMIM:620357
Koolen-De Vries Syndrome	Narrow palm, Epicanthus, Blepharophimosis, Hip dislocation, Slender finger, Prominent fingertip p...	OMIM:610443
Huntington Disease-Like 1	Involuntary movements, Depression, Memory impairment, Abnormal posturing, Incoordination, Abnorma...	ORPHA:157941
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Arthrogryposis, Distal, Type 5	Clinodactyly, Abnormality of retinal pigmentation, Decreased palmar creases, Arachnodactyly, Limi...	OMIM:108145
Congenital Toxoplasmosis	Failure to thrive in infancy, Abnormality of retinal pigmentation, Cognitive impairment, Thromboc...	ORPHA:858
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Rigidity, Elevated circulating creatine kinase concentration, Myoglobinuria, H...	OMIM:145600
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia	ORPHA:94086
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Gait disturbance, Cognitive impairment, Rod-cone dystrophy, Ataxia	ORPHA:1178
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Renal insufficiency, Increased circulating antibody level, ...	ORPHA:85443
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Pinguecula, Increased circulating antibody level...	ORPHA:77259
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Chvostek sign, Hypocalcemic seiz...	OMIM:146200
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hypomature enamel, Hematuria, Macroscopic...	OMIM:248250
Dystonia 31	Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dysto...	OMIM:619565
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Polyarticular arthritis, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic...	OMIM:617388
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormal tibia morphology...	ORPHA:249
Hypophosphatasia	Narrow chest, Failure to thrive in infancy, Abnormal metaphysis morphology, Irritability, Bowing ...	ORPHA:436
Galloway-Mowat Syndrome 1	Hand clenching, Spasticity, Joint contracture of the hand, Small nail, Epicanthus, Talipes equino...	OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Inability to walk, Elevated circulating creatine kinase concentration, Hy...	OMIM:613156
Infantile Sialic Acid Storage Disease	Osteopenia, Nephrotic syndrome, Hypopigmentation of the skin, Metaphyseal irregularity, Fair hair...	OMIM:269920
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Oculomotor apraxia, Abnormal pyramidal sign, Tetraplegia, Hypercholeste...	OMIM:616267
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration, Ptosis, Ataxi...	OMIM:619473
Cofs Syndrome	Optic atrophy, Camptodactyly of finger, Joint stiffness, Abnormality of retinal pigmentation, Sho...	ORPHA:1466
Ataxia-Telangiectasia	Spasticity, Failure to thrive, Premature graying of hair, Lymphopenia, Tremor, Gait disturbance, ...	ORPHA:100
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Vici Syndrome	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Epicanthus, Neutropenia, Albini...	OMIM:242840
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Increased circulating interleukin 8 concentration, Finger swelling, Prematu...	OMIM:256040
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Hemiplegia/hemiparesis, Cervic...	ORPHA:2345
Beta-Thalassemia Major	Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ...	ORPHA:231214
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Glut1 Deficiency Syndrome 2	Splenomegaly, Reticulocytosis, Tremor, Reduced haptoglobin level, Irritability, Ataxia, Dystonia,...	OMIM:612126
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Proximal muscle weakness in upper limbs, Fasciculations, Inability to walk...	ORPHA:276435
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Depression, Delayed skeletal maturation, Difficulty walking, Inability to...	OMIM:617675
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Generalized dystonia, Inability to walk, Lower limb spastici...	OMIM:619389
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Autoerythrocyte Sensitization Syndrome	Self-injurious behavior, Impaired platelet adhesion, Depression, Abnormal erythrocyte morphology,...	ORPHA:324636
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemi...	OMIM:615558
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ...	OMIM:301074
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons...	OMIM:619381
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, H...	OMIM:113000
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Broad ribs, Splenomegaly, J...	OMIM:612852
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Irritability, Babinski sign, Epicanthus, Hypertonia, Rod-c...	OMIM:264470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Diffuse mesangial sclerosis,...	OMIM:102700
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo...	OMIM:275400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Ureteral atresia, Vertebral segmentation defect, Talipes equinovarus, ...	OMIM:618845
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Nephrotic Syndrome, Type 22	Stage 5 chronic kidney disease, Glomerular sclerosis, Nephrotic range proteinuria, Nephrotic synd...	OMIM:619155
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ...	OMIM:616959
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i...	ORPHA:216873
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Cerebral palsy, Hypertonia, H...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Cerebral palsy, Hypertonia, H...	ORPHA:529808
Beta-Thalassemia Intermedia	Osteopenia, Abnormality of iron homeostasis, Proximal tubulopathy, Extramedullary hematopoiesis, ...	ORPHA:231222
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment, Ataxia	ORPHA:2246
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Craniofacial hyperostosis, Genu valgum, Urinary glycosaminoglycan...	ORPHA:581
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig...	ORPHA:221139
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Sparse eyebrow, Failure to thrive, Hypocholesterolemia, Telecanthus, ...	OMIM:244450
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Failure to thrive, Difficulty walk...	ORPHA:90321
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Depression, Dysdiadochokinesis, Lipoma, Delayed skeletal maturation, Diff...	ORPHA:502423
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Delayed skeletal maturation, Slender bui...	OMIM:613658
Koolen-De Vries Syndrome	Hypospadias, Hip dislocation, Abnormal dental enamel morphology, Vesicoureteral reflux, Upslanted...	ORPHA:96169
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticuloc...	OMIM:618278
Autosomal Recessive Spastic Paraplegia Type 15	Spastic paraplegia, Pigmentary retinopathy, Spasticity, Functional abnormality of the bladder, Ha...	ORPHA:100996
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating c...	ORPHA:466650
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Ankle flexion contracture, Small hand, Failure to thrive, Abnormal macular morphol...	OMIM:608799
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Ankle swelling, Memory impairment, Failure to thrive, Swelling of proximal interph...	ORPHA:3260
Autism Spectrum Disorder Due To Auts2 Deficiency	Spasticity, Joint contracture of the hand, Joint contracture of the 5th finger, Narrow palm, Epic...	ORPHA:352490
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Schwartz-Jampel Syndrome	Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Decreased body weight...	ORPHA:800
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Short ...	ORPHA:239
Phenylketonuria	Osteopenia, Hypopigmentation of the skin, Depression, Short attention span, Tremor, Phenylalaninu...	ORPHA:716
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Hypophosphatasia, Infantile	Unossified vertebral bodies, Elevated plasma pyrophosphate, Vertebral clefting, Anorexia, Increas...	OMIM:241500
Jeune Syndrome	Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Toe syndactyly, Abnorm...	ORPHA:474
Epilepsy, Progressive Myoclonic, 6	Memory impairment, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase co...	OMIM:614018
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Abnormal epiphysis morphology, Delayed skeletal maturation, Down...	ORPHA:2643
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr...	ORPHA:168549
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Kyphosis, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Majeed Syndrome	Failure to thrive, Delayed skeletal maturation, Microcytic anemia, Osteomyelitis, Hepatosplenomeg...	OMIM:609628
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Mental deterioration, Ch...	OMIM:164500
Calciphylaxis	Cellulitis, Stage 5 chronic kidney disease, Ectopic ossification, Hyperphosphatemia	ORPHA:280062
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Bilateral ptosis, Gait imbalance, Limb dysmetria, Loss of ambulation, Abn...	ORPHA:329336
Bardet-Biedl Syndrome 13	Obesity, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation of the reti...	OMIM:615990
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye...	OMIM:260400
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Progressive spastic pa...	ORPHA:506353
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Mental deterioration, Retinopathy, Ataxia	OMIM:610951
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Clinodact...	OMIM:616730
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Bowing of the legs, Hypocalcemia, Hyperphosphaturia, Iron deficiency anemi...	ORPHA:89937
Cystinosis	Nephropathy, Aminoaciduria, Rickets, Failure to thrive, Polydipsia, Renal insufficiency, Retinopa...	ORPHA:213
Opsismodysplasia	Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Hypo...	OMIM:258480
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Hypoplastic thumbnail, Short distal phalanx of finger, Short palpebral fissure, Short distal phal...	ORPHA:370010
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,...	ORPHA:521406
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Premature graying of hair, Splenomegaly, Thrombocytopenia, Clu...	OMIM:620367
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Short neck, ...	OMIM:242900
Mccune-Albright Syndrome	Renal phosphate wasting, Bone marrow hypocellularity, Aneurysmal bone cyst, Increased circulating...	ORPHA:562
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Sparse hair, Alopecia, Palmoplantar keratoderma, Failure to thrive, Increased se...	OMIM:242150
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d...	ORPHA:90650
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, Downslanted palpebral fissures, Almond-shaped palpebral fissure, Epicanth...	OMIM:616606
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inabi...	ORPHA:216866
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, Narrow vertebral interpedicula...	OMIM:250250
X-Linked Hypophosphatemia	Renal phosphate wasting, Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the lon...	ORPHA:89936
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent...	ORPHA:88618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Angioid streaks of the fundus, Decreased renal...	OMIM:211900
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hematuria, Hypophosphatemia, Weight l...	OMIM:219800
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Interstitial Lung And Liver Disease	Aminoaciduria, Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, Thromb...	OMIM:615486
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Spasticity, Failure to thrive, Downslanted palpebral fissures, Stage 5 chronic k...	OMIM:617729
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Failure to thrive, Lack of T cell function, Increased circulatin...	ORPHA:277
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Ataxia-Telangiectasia	Abnormal hair morphology, Lymphopenia, Abnormal B cell count, Decreased proportion of CD4-positiv...	OMIM:208900
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Epicanthus, Large hands, Short metacarpal, Self-injurious behavior, Pe...	ORPHA:192
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Short neck,...	OMIM:178110
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess	ORPHA:67
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Neutropenia, Chronic Familial	Clubbing of fingers, Clubbing, Neutropenia, Increased circulating antibody level	OMIM:162700
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme...	ORPHA:66637
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal...	OMIM:615924
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Mevalonic Aciduria	Progressive cerebellar ataxia, Fluctuating splenomegaly, Failure to thrive, Downslanted palpebral...	OMIM:610377
Sjögren-Larsson Syndrome	Spasticity, Macular degeneration, Abnormal dental enamel morphology, Joint stiffness, Generalized...	ORPHA:816
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Cone/cone-rod dystrophy, Bowing of the long bones, Short metacarpal, Ovoid verte...	ORPHA:85167
Verheij Syndrome	Short 5th finger, Renal hypoplasia, Small for gestational age, Clinodactyly, Joint hypermobility,...	OMIM:615583
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Spasticity, Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis,...	OMIM:618213
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Narrow chest, Metaphyseal irregularity, Polydipsia, Failure to thrive, Splenomegal...	OMIM:239200
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Small for gestational age, Failure to thrive, Myoclonus, Neonatal...	OMIM:619055
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae, Congenital ptosis	OMIM:192800
Zika Virus Disease	Ankle swelling, Retinal pigment epithelial mottling, Optic disc hypoplasia, Wrist swelling, Chori...	ORPHA:448237
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Rachitic rosary, Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, P...	ORPHA:157215
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy, Ataxia, Dementia	OMIM:551500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures	ORPHA:2239
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Epicanthus, Hypospadias, Hip dislocation, Short toe,...	OMIM:270400
Fibronectin Glomerulopathy	Hypoalbuminemia, Renal insufficiency, Proteinuria, Nephrotic syndrome, Microscopic hematuria	ORPHA:84090
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Increased ...	OMIM:618495
Kawasaki Disease	Hypoalbuminemia, Abnormality of nail color, Sterile pyuria, Leukocytosis, Palmar edema, Proteinur...	ORPHA:2331
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Spasticity, Myoclonus, Babinski sign, Ptosis, Cognitive im...	OMIM:252011
Xfe Progeroid Syndrome	Hypoalbuminemia, Optic atrophy, Failure to thrive, Corneal scarring, Attenuation of retinal blood...	OMIM:610965
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Congenital diaphragmatic hernia, Ara...	OMIM:265000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F	ORPHA:46532
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas...	OMIM:159950
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B...	OMIM:619073
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Delirium, Methylmalonic acidemia, Homocys...	OMIM:277400
Juvenile Paget Disease	Optic atrophy, Pectus carinatum, Coarse metaphyseal trabecularization, Abnormal clavicle morpholo...	ORPHA:2801
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Spasticity, Hypopigmentation of the skin, Abnormal optic nerve morphology, Prematu...	ORPHA:33445
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Hypopigmentation of...	ORPHA:177910
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Hypermanganesemia With Dystonia 2	Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w...	OMIM:617013
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Loss of ambulation, Irritability, Increased circulating Interfero...	OMIM:615010
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl...	OMIM:274000
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Midclavicular hypoplasia, Broad thumb, Subcutaneous lipoma, Downslanted palpebra...	ORPHA:79076
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Nephrolithiasis, Pol...	OMIM:617994
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Pectus carinatum, HbH hemoglobin, Failure to thrive, Downslanted palpebral fissures, Microcytic a...	ORPHA:98791
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hydroureter, Limited mobility of proximal interphalangeal ...	OMIM:222300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly, Flexion contracture, Failure to thrive	ORPHA:367
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Talipes equinovarus, Short neck, Short fo...	OMIM:611209
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Lamb-Shaffer Syndrome	Optic atrophy, Abnormal temper tantrums, Thoracic kyphosis, Epicanthus, Motor stereotypy, Hyperac...	ORPHA:530983
Chylomicron Retention Disease	Failure to thrive, Hypocholesterolemia, Acanthocytosis, Retinopathy, Steatorrhea	ORPHA:71
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hy...	OMIM:613070
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Spasticity, Bone marrow hypocellularity, Hypopigmented s...	ORPHA:381
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Cone-shaped epiphysis, Stage 5 chronic kidney disease, ...	ORPHA:3156
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F...	OMIM:300554
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Renal potassium wasting, Osteopenia, Hyperchloriduria, Polydipsia, Increased ...	OMIM:241200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ...	OMIM:251880
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Pigmentary retinopathy, Joint contracture of the hand, Failure to thrive, Palpebra...	OMIM:214110
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss, Elevated circulati...	ORPHA:2902
Oncogenic Osteomalacia	Abnormal vertebral morphology, Renal phosphate wasting, Pathologic fracture, Abnormality of the t...	ORPHA:352540
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell c...	OMIM:304790
Cockayne Syndrome	Mental deterioration, Spasticity, Dry hair, Difficulty walking, Action tremor, Reduced subcutaneo...	ORPHA:191
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Failure to thrive, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilir...	OMIM:607765
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hyperpigmen...	ORPHA:186
Congenital Rubella Syndrome	Splenomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Anemia, Abnormal metaphysis ...	ORPHA:290
Pearson Syndrome	Pancytopenia, Hypophosphatemia, Neutropenia, Ataxia, Hypoplastic spleen, Dysphagia, Renal insuffi...	ORPHA:699
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Mental deterioration, Depression, Memory impairment, Chorea, Limb dysmetria...	OMIM:213600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Decreased...	OMIM:606367
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Progressive neurologic deterioration, Limitation of joint mobility, Tremor, Proteinu...	ORPHA:1192
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Doors Syndrome	Toenail dysplasia, Abnormal toenail morphology, Lumbar scoliosis, Epicanthus, Aplasia/Hypoplasia ...	ORPHA:79500
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Spastic paraparesis, Spasticity, Progressive psychomotor deterioration, V...	ORPHA:3208
Boutonneuse Fever	Abnormal skin morphology of the palm, Leukopenia, Renal insufficiency, Thrombocytopenia, Increase...	ORPHA:83313
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Short first m...	OMIM:601957
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Kbg Syndrome	Ulnar deviation of the 2nd finger, Low posterior hairline, Short neck, Epispadias, Syndactyly, Ve...	OMIM:148050
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Low posterior hairline, Ventral hernia, Short neck, Hip dislocation, Osteopenia, Atyp...	OMIM:618000
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia, Abn...	ORPHA:848
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Small nail, Supernu...	ORPHA:373
Hyperlysinemia, Type I	Hypoornithinemia, Hyperlysinuria, Short attention span, Argininuria, Clumsiness, Hyperlysinemia, ...	OMIM:238700
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F...	OMIM:300009
Khan-Khan-Katsanis Syndrome	Clinodactyly, Lymphopenia, Epiblepharon, Neutropenia, Dysphagia, Hypertonia, Anemia, Ureteral dup...	OMIM:618460
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Chromosome Xq13 Duplication Syndrome	Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Clinodactyly of the 5th f...	OMIM:301069
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Myelofibrosis	ORPHA:729
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Delayed skeletal maturation, Hypocholesterolemia, Decreased LDL cholesterol co...	OMIM:616834
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Depression, Kyphosis, Abnormal posturing, Generalized dystonia, Inability to walk,...	OMIM:128100
Tay-Sachs Disease	Cherry red spot of the macula, Incoordination, Dysphagia, Mania, Poor fine motor coordination, De...	ORPHA:845
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Optic nerve hypoplasia, Absent thumb, Short 1st me...	OMIM:609053
Ataxia With Vitamin E Deficiency	Mental deterioration, Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemiparesis, Tre...	ORPHA:96
Aspergillosis	Abnormality of the vertebral column, Increased circulating IgE level, Osteomyelitis, Abnormal lon...	ORPHA:1163
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Dystrophic toenail, Decreased number of s...	ORPHA:69087
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc...	ORPHA:2635
Homocarnosinosis	Spastic paraplegia, Carnosinuria, Abnormality of retinal pigmentation, Abnormality of skin pigmen...	OMIM:236130
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Hyperchloriduria, Increased serum prostaglandin ...	OMIM:601678
Gm1 Gangliosidosis	Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Oral aversion, Generalized hirsuti...	ORPHA:354
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Mental deterioration, Hypomethioninemia, Neutropenia, Ataxia, Delirium, Poor fine motor coordinat...	ORPHA:79282
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Pigmentary retinopathy, Depression, Emotional lability, Retinal degenera...	ORPHA:79264
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Decreased urinary urate,...	OMIM:613179
Neurodegeneration With Brain Iron Accumulation 1	Mental deterioration, Spasticity, Acanthocytosis, Obsessive-compulsive trait, Parkinsonism, Abnor...	OMIM:234200
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Akinesia, Increased susceptibility to fractures, Mult...	OMIM:253290
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Nephrocalcinosis, Metaphyseal cupping, Clubbing of fingers, Pathologic fracture, Hype...	OMIM:156400
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Decreas...	OMIM:275350
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Cutaneous abscess, Increased circulating IgE level, Osteomyelitis, Decreased circulatin...	OMIM:618282
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Short toe, Delayed skeletal maturation, Obesity, Abnormality of retinal pigmentation, Hy...	ORPHA:3085
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal rib morphology	ORPHA:2435
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, General...	ORPHA:363400
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ...	ORPHA:470
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Broad thumb, Finger syndactyly, Cervical ribs, Horseshoe kidney, Absent radius, ...	ORPHA:3320
Peroxisome Biogenesis Disorder 1A (Zellweger)	Bell-shaped thorax, Loss of ambulation, Epicanthus, Talipes equinovarus, Optic disc pallor, Album...	OMIM:214100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small nail, Hepatosplenomegaly, Epicanthus, Talipes equinovarus, Rod-cone dystrophy, Brushfield s...	OMIM:614866
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ...	OMIM:300555
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Limited elbow extension and supination, Short neck, Brachydactyly, Clinoda...	OMIM:244600
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Spasticity, Cerebral palsy, Clubbing of fingers	OMIM:618973
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt...	ORPHA:859
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Optic nerve compression, Abnormal metaphysis morphol...	ORPHA:667
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Hypertriglyceridemia, Increased ci...	OMIM:617591
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Joint dislocation, Lymphopenia, Joint stiffness, Leukopenia, Spl...	OMIM:620210
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Steppage gait...	OMIM:618387
Castleman Disease	Increased circulating interleukin 6 concentration, Ureteral obstruction, Renal insufficiency, Hem...	ORPHA:160
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ...	ORPHA:628
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Lateral Meningocele Syndrome	Coarse hair, Keloids, Downslanted palpebral fissures, Umbilical hernia, Sclerosis of skull base, ...	OMIM:130720
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Igg4-Related Pachymeningitis	Nephritis, Mental deterioration, Abnormal optic nerve morphology, Increased circulating IgG4 leve...	ORPHA:449427
Sialidosis Type 2	Nephropathy, Pectus carinatum, Short thorax, Abnormal macular morphology, Umbilical hernia, Splen...	ORPHA:87876
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Spasticity, Hyperglycinemia, Hyperalaninemia, Scoliosis, Hip dislocation	OMIM:619059
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Broad-based gait, Persistence of hemoglobin F, Downslanted palpebral fis...	OMIM:617101
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary aminoisobutyric acid, Elevated ...	OMIM:614105
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Hereditary Methemoglobinemia	Spasticity, Small for gestational age, Abnormality of the nail, Limb dystonia, Methemoglobinemia,...	ORPHA:621
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Spasticity, Loss of ambulation, Ataxia, Optic disc pallor, Dysphagia, Blepharospasm, Involuntary ...	OMIM:617282
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Spasticity, Intraalveolar phospholipid accumulat...	OMIM:620565
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental enamel morphology, Clin...	ORPHA:2916
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Kearns-Sayre Syndrome	Progressive intervertebral space narrowing, Delayed skeletal maturation, Abnormality of retinal p...	ORPHA:480
Leber Congenital Amaurosis 1	Hyperthreoninuria, Pigmentary retinopathy, Attenuation of retinal blood vessels, Hyperthreoninemi...	OMIM:204000
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple ptery...	OMIM:312150
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circul...	OMIM:214700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig...	OMIM:243700
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Intellectual Developmental Disorder, Autosomal Dominant 52	Pectus carinatum, Lumbar hyperlordosis, Obsessive-compulsive trait, Low anterior hairline, Lumbar...	OMIM:617796
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin...	OMIM:607271
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Failure to thrive, Decreased circulating IgA level, Splenomegaly, Elevated circulatin...	OMIM:613327
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges...	ORPHA:2513
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive, Osteoporosis, Scoliosis, Kyphosis	OMIM:618234
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Microcephaly-Cardiomyopathy Syndrome	Sandal gap, Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Cognitive impair...	ORPHA:2515
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Abnormal sacral segmentation, Oral-pharyngeal dysphagia, Downslanted palpebral fissures, Long eye...	ORPHA:480907
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy, Spasticity, Failure to thrive, Hypertrichosis, Emotional l...	OMIM:256000
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m...	OMIM:613501
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Small hand, Resting tremor, Emotional lability, Parkinsonism, Short neck, Ataxia, Bradykinesia, R...	OMIM:300055
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Spasticity, Failure to thrive, Hyperammonemia, Joint hypermobility, Hydronephros...	OMIM:617093
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Small hand, Gait ataxia, Intention tremor, Dysmetria, Tremor, Thoracic scoliosi...	OMIM:610185
Rift Valley Fever	Macular edema, Retinal hemorrhage, Retinal vasculitis, Retinitis, Hemiparesis, Paralysis, Parapar...	ORPHA:319251
Mosaic Trisomy 14	Narrow chest, Failure to thrive, Camptodactyly of finger, Bilateral single transverse palmar crea...	ORPHA:1703
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Increased circulating IgE level, Hypoplastic iliac wing, Brachyda...	ORPHA:1858
Alstrom Syndrome	Nephritis, Pigmentary retinopathy, Alopecia, Decreased HDL cholesterol concentration, Obesity, At...	OMIM:203800
Gaucher Disease	Cherry red spot of the macula, Decreased HDL cholesterol concentration, Pancytopenia, Increased c...	ORPHA:355
Mohr-Tranebjaerg Syndrome	Mental deterioration, Spasticity, Abnormal posturing, Increased susceptibility to fractures, Trem...	OMIM:304700
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ...	OMIM:139210
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Steatorrhea	OMIM:602579
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to...	OMIM:618987
Juvenile Polyposis Syndrome	Rectocele, Brain abscess, Failure to thrive, Downslanted palpebral fissures, Multiple lipomas, An...	ORPHA:2929
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Say-Barber-Miller Syndrome	Spastic paraparesis, Abnormality of the hairline, Impaired neutrophil chemotaxis, Lingual dystoni...	ORPHA:3132
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hypertrichosis, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, K...	OMIM:252930
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Mental deterioration, Spasticity, Premature graying of hair, Genu valgum, Bowing of the long bone...	OMIM:612199
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Bowing of the ...	ORPHA:90652
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul...	OMIM:300400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Urinary incontinence, Slanting of the palpebral fissure, Motor stereotypy, Attention ...	ORPHA:476126
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Increased circulating IgE level, Sp...	OMIM:615508
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,...	OMIM:601457
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Single transverse palmar crease...	OMIM:300861
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Difficulty walking, Paraproteinemia, Bradykinesia, Flexion contracture, ...	ORPHA:171442
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Mpi-Cdg	Hypoalbuminemia, Failure to thrive	ORPHA:79319
Atypical Rett Syndrome	Spasticity, Small hand, Loss of ambulation, Short foot, Involuntary movements, Limb myoclonus, In...	ORPHA:3095
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Wiedemann-Steiner Syndrome	Broad-based gait, Small hand, Long hallux, Contracture of the distal interphalangeal joint of the...	OMIM:605130
Wolf-Hirschhorn Syndrome	Low posterior hairline, Radioulnar synostosis, Epicanthus, Talipes equinovarus, Short hallux, Hyp...	OMIM:194190
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Tetraparesis, Short neck, Anterior rib cupping, At...	OMIM:300232
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Delayed skeletal maturation, Decreased ci...	OMIM:617744
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Rhizomelia, Failure to thrive, Short tibia, Sandal gap, Decrease...	OMIM:607143
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Narp Syndrome	Retinal pigment epithelial mottling, Dementia, Retinal arteriolar tortuosity, Irritability, Progr...	ORPHA:644
Smith-Magenis Syndrome	Abnormal forearm morphology, Head-banging, Onychotillomania, Self-mutilation, Increased body weig...	OMIM:182290
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Osteopenia, Increased circulating IgE level, Osteomyelitis, Abnormal hair morphology,...	ORPHA:2314
Juvenile Polyposis Syndrome	Hypoalbuminemia, Failure to thrive, Hypokalemia, Anemia, Clubbing	OMIM:174900
48,Xxyy Syndrome	Depression, Elbow dislocation, Abnormal shoulder morphology, Abnormal dental enamel morphology, O...	ORPHA:10
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Broad-based gait, Joint contracture of the hand, Urinary i...	OMIM:609033
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Spasticity, Failure to thrive, 3-Methylglutaconic aciduria, Hyper...	OMIM:618329
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Spasticity, Sparse eyebrow, Hypocholesterolemia, Neonatal death, Brittle hair, Micropenis	OMIM:618810
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Glycosuria, Failure to thrive, Hyperphospha...	ORPHA:436271
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Spasticity, Abnormal odontoid tissue morphology, Cherry red spot...	ORPHA:79255
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Infantile-Onset X-Linked Spinal Muscular Atrophy	Tongue fasciculations, Ankle flexion contracture, Interphalangeal joint contracture of finger, El...	ORPHA:1145
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteom...	ORPHA:324964
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:613090
Mucopolysaccharidosis, Type Ii	Hypertrichosis, Umbilical hernia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Tracheo...	OMIM:309900
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Autoimmune Hepatitis	Depression, Increased total bilirubin, Vitiligo, Splenomegaly, Increased circulating antibody lev...	ORPHA:2137
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Thoracic hypoplasia, Downslanted palpebral fissures, ...	OMIM:616638
Adult-Onset Distal Myopathy Due To Vcp Mutation	Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Dementia, T...	ORPHA:329478
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Renal hypoplasia, Sm...	OMIM:620005
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Depression, Retinal pigment epithelial mottling, Dementia, Gait ataxia, Myoclon...	OMIM:607459
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Saccharopinuria	Mental deterioration, Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyper...	ORPHA:3124
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Hypomagnesemia, Hypocalcem...	OMIM:244460
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Scoliosis, Long penis, P...	ORPHA:1988
Refsum Disease	Abnormal epiphysis morphology, Renal insufficiency, Splenomegaly, Abnormality of retinal pigmenta...	ORPHA:773
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Retinal vas...	OMIM:618969
Eem Syndrome	Finger syndactyly, Ectrodactyly, Sparse body hair, Abnormality of retinal pigmentation, Retinopat...	ORPHA:1897
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney ...	ORPHA:1652
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k...	ORPHA:656
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Failure to thrive, Conjunctivitis, Vitiligo, Pancytopenia, Decre...	OMIM:614700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Clinodactyly, Delayed skeletal maturation, Slender long bone, Failure to thrive in infancy, Pancy...	OMIM:613385
Aicardi Syndrome	Spasticity, Small hand, Chorioretinal coloboma, Multiple lipomas, Retinal detachment, Optic disc ...	ORPHA:50
Coccidioidomycosis	Atypical scarring of skin, Granuloma, Abnormality of the vertebral column, Abnormality of the spl...	ORPHA:228123
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Abnormality of the uret...	ORPHA:3027
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Fanconi-Bickel Syndrome	Nephropathy, Osteopenia, Generalized aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Failur...	ORPHA:2088
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Optic Atrophy 11	Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Splenomegaly, Dysmetria...	OMIM:617302
3Q29 Microdeletion Syndrome	Pectus carinatum, Depression, Failure to thrive, Downslanted palpebral fissures, Horseshoe kidney...	ORPHA:65286
Lopes-Maciel-Rodan Syndrome	Spasticity, Small hand, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyram...	OMIM:617435
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Cellulitis, Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating I...	OMIM:615513
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Renal phosphate wasting, Osteomalacia, Sclerotic vertebral endplates, Ric...	ORPHA:289176
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal cupping of metacarpals, Abnormal pelvic girdle bone morphology, Abnormality of the ve...	OMIM:250460
Chromosome 8Q22.1 Duplication Syndrome	Broad thumb, Limitation of joint mobility, Blepharophimosis, Narrow palpebral fissure, Short meta...	OMIM:151200
Primary Sclerosing Cholangitis	Hypoalbuminemia, Osteopenia, Depression, Palmar telangiectasia, Hepatosplenomegaly, Renal insuffi...	ORPHA:171
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Short neck, Absent phalangeal crease, Fused thoracic vertebrae, Antecubital ...	OMIM:618469
Cockayne Syndrome A	Dry hair, Limitation of joint mobility, Square pelvis bone, Hypoplastic iliac wing, Reduced subcu...	OMIM:216400
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Me...	ORPHA:1328
Duane Retraction Syndrome	Hypopigmented skin patches, Chorioretinal coloboma, Low posterior hairline, Talipes equinovarus, ...	ORPHA:233
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft...	ORPHA:423
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Posterior fusion of lumbosacral v...	ORPHA:2064
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho...	OMIM:616963
Werner Syndrome	Abnormal hair whorl, Small hand, Chondrocalcinosis, Premature graying of hair, Slender build, Joi...	ORPHA:902
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Abnormal rib morphology, Melanocyt...	ORPHA:377
Angiostrongyliasis	Stiff neck, Hypereosinophilia, Increased circulating specific IgE antibody, Irritability, Increas...	ORPHA:74
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia	OMIM:610798
Ramon Syndrome	Failure to thrive, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Genera...	ORPHA:3019
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Ptosis, Hyperalaninemia, Pr...	ORPHA:254881
Chondrodysplasia Punctata 2, X-Linked Dominant	Stippled calcification in carpal bones, Sparse eyelashes, Short neck, Patellar dislocation, Bilat...	OMIM:302960
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Japanese Encephalitis	Increased circulating antibody level, Opisthotonus, Talipes equinovarus, Cognitive impairment, Ne...	ORPHA:79139
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Beaking of vertebral bodies, Retinal detachment, Broad toe, Flat acetabul...	OMIM:609616
Atypical Werner Syndrome	Limitation of joint mobility, Premature graying of hair, Sclerosis of hand bone, Abnormal hair mo...	ORPHA:79474
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Osteogenesis Imperfecta	Thin ribs, Tetraparesis, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Dec...	ORPHA:666
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Finger syndactyly, Arachnodactyly, Talipes equinovarus, Ulnar devia...	ORPHA:2215
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Ataxia, Hypopigmentation of the skin, Hemophagocytosis, ...	OMIM:214500
Prolidase Deficiency	Palmoplantar keratoderma, Abnormal fingernail morphology, Abnormal hip bone morphology, Genu valg...	ORPHA:742
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Coarse hair, Failure to thrive, Downslanted palpebral fissur...	ORPHA:83617
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal epiphysis morphol...	ORPHA:93267
Jaberi-Elahi Syndrome	Hand clenching, Broad-based gait, Sparse eyelashes, Talipes equinovarus, Brittle hair, Sparse hai...	OMIM:617988
Basal Cell Nevus Syndrome 1	Short 4th metacarpal, Palmar pits, Short distal phalanx of the thumb, Vertebral wedging, Abnormal...	OMIM:109400
Raine Syndrome	Highly arched eyebrow, Hydroureter, Thoracic hypoplasia, Micromelia, Downslanted palpebral fissur...	OMIM:259775
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Micromelia, Jo...	ORPHA:1801
Choreoacanthocytosis	Mental deterioration, Resting tremor, Acanthocytosis, Limb dystonia, Emotional lability, Hair-pul...	ORPHA:2388
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Pancytopenia, Myoclonus, Tremor, Elevated circulating creatin...	OMIM:607426
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Short palpebral fissure, Downslanted palpebral fissures, Umbilical hernia...	OMIM:612582
Igg4-Related Kidney Disease	Chronic kidney disease, Increased circulating IgE level, Urethritis, Hematuria, Decreased circula...	ORPHA:449395
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Sialidosis Type 1	Aminoaciduria, Pectus carinatum, Abnormal form of the vertebral bodies, Delayed skeletal maturati...	ORPHA:812
Dystrophic Epidermolysis Bullosa Pruriginosa	Abnormal forearm morphology, Increased circulating IgE level, Atrophic scars, Abnormality of the ...	ORPHA:89843
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Myoclonus, Hyperglycinemia, Agitation, Ankle clonus, Irritability, Impulsivity, Le...	OMIM:620423
Radio-Tartaglia Syndrome	Small nail, Epicanthus, Narrow palpebral fissure, Ataxia, Long eyebrows, Motor stereotypy, Dyspha...	OMIM:619312
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Toe syndactyly, Small hand, Epicanthus, Short neck, Cachexia, Blepharophimosis,...	ORPHA:85293
Neurofibromatosis Type 1	Hypopigmented skin patches, Chorioretinal coloboma, Genu valgum, Multiple lipomas, Ataxia, Leukem...	ORPHA:636
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, S...	OMIM:118100
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Hyperostosis, Periostosis, Knee pain, Clubbing	OMIM:614441
Mucopolysaccharidosis Type 4	Genu valgum, Hernia, Bowing of the long bones, Short neck, Cognitive impairment, Pectus carinatum...	ORPHA:582
Tubulointerstitial Nephritis And Uveitis Syndrome	Retinal vasculitis, Increased circulating antibody level, Weight loss, Anorexia, Elevated circula...	ORPHA:91500
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Accele...	ORPHA:1354
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertoni...	OMIM:261640
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Gait imbalance, M...	ORPHA:98794
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level, Gl...	OMIM:247800
Netherton Syndrome	Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Failure to thrive, Increased...	OMIM:256500
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increased circulat...	ORPHA:37748
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria, Diffuse mes...	OMIM:615244
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Narrow chest, Short distal phalanx of finger, Retinal pigment epithelial mo...	OMIM:617102
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Failure to thrive, Alopecia totalis, Abnormal lymphocyte morphology, Decreased circulat...	ORPHA:293978
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Hypouricemia, Spasticity, Spastic paraparesis, Decreased urinary urate, Cerebral palsy, A...	ORPHA:760
Shashi-Pena Syndrome	Highly arched eyebrow, Unilateral renal agenesis, Hypertrichosis, Long eyelashes, Cervical C2/C3 ...	OMIM:617190
Poland Syndrome	Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Co...	ORPHA:2911
Activated Pi3K-Delta Syndrome	Failure to thrive, Splenomegaly, Arthritis, B lymphocytopenia, Decreased circulating antibody lev...	ORPHA:397596
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Wiedemann-Rautenstrauch Syndrome	Spasticity, Slender build, Action tremor, Reduced subcutaneous adipose tissue, Synovitis, Ataxia,...	ORPHA:3455
Cockayne Syndrome B	Dry hair, Limitation of joint mobility, Square pelvis bone, Abnormal hair morphology, Hypoplastic...	OMIM:133540
Hurler Syndrome	Abnormal vertebral morphology, Spastic paraparesis, Limitation of joint mobility, Generalized hir...	ORPHA:93473
Atelosteogenesis, Type Ii	Increased intervertebral space, Talipes equinovarus, Short neck, Short greater sciatic notch, Fla...	OMIM:256050
Classic Phenylketonuria	Self-injurious behavior, Mental deterioration, Hypopigmentation of the skin, Depression, Memory i...	ORPHA:79254
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Pigmentary retinopathy, Osteomyelitis, Gait ataxia, Gait disturbance, Bone sp...	ORPHA:88628
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Glycosuria, Failure to thrive, Hyperphospha...	OMIM:220110
Crimean-Congo Hemorrhagic Fever	Conjunctivitis, Fasciculations, Stiff neck, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Spl...	ORPHA:99827
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Proximal tubulopathy, Rickets, Failure to thrive, Mottled pigmentation of...	OMIM:560000
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto...	OMIM:613280
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Frontal upsweep of hair, Epicanthus, Motor stereotypy, Dysphagia, Self-injurious behavior, Downsl...	OMIM:617061
Stiff-Person Syndrome	Depression, Vitiligo, Lumbar hyperlordosis, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated...	OMIM:184850
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Difficulty walking, Short neck, Ovoid thoracolumbar vertebrae, Restlessness...	OMIM:252940
Thoracomelic Dysplasia	Narrow chest, Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Congenital Bile Acid Synthesis Defect Type 4	Mental deterioration, Pigmentary retinopathy, Depression, Memory impairment, Tremor, Elevated cir...	ORPHA:79095
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad...	ORPHA:959
Simple Cryoglobulinemia	Progressive neurologic deterioration, Nephritis, Monoclonal immunoglobulin M proteinemia, Parapro...	ORPHA:91139
Renpenning Syndrome	Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Joint stiffness, Clinodactyly of the 5th f...	ORPHA:3242
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Mucopolysaccharidosis, Type Iiib	Coarse hair, Dense calvaria, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, H...	OMIM:252920
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Delayed skeletal maturation, Clinodactyly, Congen...	ORPHA:73272
Sneddon Syndrome	Mental deterioration, Lymphopenia, Atrophic scars, Hemiplegia, Tremor, Decreased circulating tota...	OMIM:182410
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Decr...	OMIM:618183
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Finger syndactyly, Fine hair, Supernumerary nipple, Abnormal fingernail morpho...	ORPHA:1433
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Mgat2-Cdg	Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG ...	ORPHA:79329
Cri-Du-Chat Syndrome	Premature graying of hair, Difficulty walking, Overfriendliness, Epicanthus, Short neck, Hypospad...	OMIM:123450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, Epicanthus, B lymphocytopenia, ...	OMIM:614069
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Inappropriate lau...	ORPHA:411515
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Abnormal optic disc morphology, Short neck,...	ORPHA:508498
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, A...	ORPHA:198
Pelizaeus-Merzbacher Disease	Mental deterioration, Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign...	OMIM:312080
Immunodeficiency 48	Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho...	OMIM:269840
Atelosteogenesis, Type I	Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Neonatal death, Talipes eq...	OMIM:108720
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased gl...	OMIM:602522
Colchicine Poisoning	Alopecia, Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia,...	ORPHA:31824
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor...	ORPHA:3077
Tularemia	Brain abscess, Cutaneous abscess, Confusion, Leukocytosis, Increased circulating antibody level, ...	ORPHA:3392
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Spasticity, Hypopigmented skin patches, Sandal gap, Renal insufficiency, Abnormali...	ORPHA:2715
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In...	OMIM:619313
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Rickets, Beta 2-microglobulinuria, Glycosuria, Osteomala...	OMIM:227810
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Failure to thrive, Extramedullary hematopoiesis, Hyperbilirubinemia, Dark urine, Abnorma...	ORPHA:79303
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Osteoporosis, Eosinophilia	OMIM:620532
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Failure to thrive, Generalized dystonia, Inability to walk, Chorea, Ataxia, Progressi...	ORPHA:70472
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Bone ...	OMIM:193100
Spinocerebellar Ataxia 48	Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ...	OMIM:618093
21Q22.11Q22.12 Microdeletion Syndrome	Clinodactyly, Small nail, Cone-shaped epiphyses of the phalanges of the hand, Self-injurious beha...	ORPHA:261323
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Stage 5 chronic kidney disease, Prot...	OMIM:609049
Fibrodysplasia Ossificans Progressiva	Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossi...	OMIM:135100
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cone-shaped epiphysis, Fair hair, Obesity, Blue irides, Brachydactyly, Short metatar...	OMIM:614613
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Hemiplegia, Ptosis, Abnormality of retinal pigmentation	ORPHA:2743
Mogs-Cdg	Optic atrophy, Decreased circulating IgG level, Alopecia, Short palpebral fissure, Fair hair, Hep...	ORPHA:79330
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Pectus carinatum, Contractures of the large joints, Failure to thrive, Single tran...	OMIM:617527
Tangier Disease	Ectropion, Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Thrombocytopenia, Hypertrigly...	ORPHA:31150
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, Gl...	OMIM:613388
Mucopolysaccharidosis Type 2	Mental deterioration, Limitation of joint mobility, Cognitive impairment, Motor stereotypy, Short...	ORPHA:580
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Hypospadias, Self-injurious behavior, Finger syndactyly, Sandal gap, Obesity, C...	ORPHA:254346
Nijmegen Breakage Syndrome	Progressive vitiligo, Retinal pigment epithelial mottling, Sandal gap, Autoimmune hemolytic anemi...	OMIM:251260
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Incontinentia Pigmenti	Spasticity, Hypopigmented skin patches, Finger syndactyly, Supernumerary nipple, Abnormal hair mo...	ORPHA:464
Multiple Sulfatase Deficiency	Optic atrophy, Coarse hair, Broad thumb, Rapid neurologic deterioration, Joint stiffness, Thick e...	ORPHA:585
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Involuntary movements, Mental deterioration, Failure to thrive, Downsl...	ORPHA:442835
Mucopolysaccharidosis, Type Iiia	Coarse hair, Umbilical hernia, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly,...	OMIM:252900
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Short palpebral fissure, Delayed skeletal maturation, Clinodactyl...	ORPHA:2163
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho...	ORPHA:225147
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Chromosome 10Q26 Deletion Syndrome	Broad-based gait, Toe syndactyly, Small nail, Low posterior hairline, Epicanthus, Short neck, Pro...	OMIM:609625
Moebius Syndrome	Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Lower limb undergrowth,...	OMIM:157900
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Optic nerve hypoplasia, Abnormal pelvic girdle bone morphology, Failure t...	OMIM:222765
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen...	OMIM:251270
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Decreased circulating carnitine concentration, Increased circulating free...	ORPHA:71212
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus,...	ORPHA:897
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Abnormal c...	OMIM:308230
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Ptosis...	OMIM:616549
Melas	Nephropathy, Optic atrophy, Pigmentary retinopathy, Focal segmental glomerulosclerosis, Proximal ...	ORPHA:550
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Posta...	OMIM:614500
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Spasticity, Limitation of joint mobility, Ureteral stenosis, Ocular albini...	ORPHA:2719
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Cognitive impairment, Gait apra...	OMIM:615157
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Ataxia, Hemolyti...	ORPHA:713
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move...	ORPHA:1826
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Proximal renal tubular...	OMIM:309000
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Highly arched eyebrow, Hypospadias, Toe syndactyly, Short thumb, H...	ORPHA:2319
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Decreased body mass index, Failure to thrive, Abnormality of the hairline, Congen...	ORPHA:370079
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Craniodiaphyseal Dysplasia	Optic atrophy, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Proteus Syndrome	Rib exostoses, Finger syndactyly, Chorioretinal coloboma, Generalized hirsutism, Cachexia, Abnorm...	ORPHA:744
Alveolar Echinococcosis	Abnormal vertebral morphology, Cutaneous abscess, Abnormal sternum morphology, Hemiparesis, Low b...	ORPHA:284
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Joint swelling, Panniculitis, Increased proportion of...	OMIM:617099
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen...	OMIM:271510
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Kyphoscoliosis, 2-3 toe syndactyly, Motor stereotypy, Aggressive behavior, Irritabil...	ORPHA:391307
Barth Syndrome	Fair hair, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Cyclic neutropenia,...	OMIM:302060
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Gait imbalance, Renal insufficiency, Vesicoureteral reflux, Upslanted pa...	OMIM:617159
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Urinary glycosamin...	OMIM:253220
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Autosomal Recessive Multiple Pterygium Syndrome	Limitation of joint mobility, Finger syndactyly, Low posterior hairline, Epicanthus, Cognitive im...	ORPHA:2990
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Genu valgum, Hypophosphatemic rickets, Stage 5 chronic kidney disease,...	OMIM:618913
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Sprengel anomaly, Scoliosis,...	OMIM:214300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Broad-based gait, Agammaglobulinemia, Absent circulating B cells...	OMIM:619705
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Self-injurious behavior, Sparse eyebrow, Downslanted palpebral fissures, Single transverse palmar...	OMIM:620075
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Delayed skeleta...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Thoracic hypoplasia, Small e...	OMIM:608728
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ataxia, Bilateral talipe...	OMIM:253010
Lowry-Wood Syndrome	Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Delayed sk...	ORPHA:1824
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Laurence-Moon Syndrome	Spastic paraplegia, Pigmentary retinopathy, Obesity, Chorioretinal atrophy, Polydactyly, Abnormal...	OMIM:245800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Xq28 (MECP2) duplication	Depression, Functional abnormality of the bladder, Failure to thrive, Inability to walk, Decrease...	DECIPHER:45
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Elevated urinary sul...	OMIM:233910
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Optic atrophy, Hand clenching, Elbow flexion contracture, Long eyelashes, Overla...	OMIM:617301
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Sparse body hair, Abnormal den...	ORPHA:1133
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Pectus carinatum, Postaxial foot polydactyly, Contractures of the large joints, Fa...	ORPHA:521426
Peeling Skin Syndrome 1	Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Palmoplantar hyperhid...	OMIM:270300
Distal Renal Tubular Acidosis	Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Polydipsia, Increased susceptibili...	ORPHA:18
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Osteomalacia, Abnormal joint morphology, Hernia, Epicanth...	ORPHA:1901
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Ptosis, Unsteady gait, Retinal degeneration	OMIM:520000
Joubert Syndrome 28	Highly arched eyebrow, Pigmentary retinopathy, Joint hypermobility, Oculomotor apraxia, Ataxia, O...	OMIM:617121
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Pancytopenia, Genu valgum, Short neck, Ataxia, Bilateral coxa valga, Optic di...	ORPHA:309282
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Eye poking, Fundus atrophy, Optic d...	OMIM:204100
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Clinodactyly, Small nail, Frontal upsweep of hair, Epicanthus, Narrow palpebral fissure, Motor st...	OMIM:620494
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Reduced renal corticomedullary differentiation, Knee flexion...	OMIM:618733
Rasmussen Subacute Encephalitis	Hemidystonia, Involuntary movements, Memory impairment, Inability to walk, Emotional lability, He...	ORPHA:1929
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Ing...	OMIM:227330
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi...	OMIM:134600
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Downslanted palpebral fissures, Joint hypermobility, Cervical C2/C3 vertebral fusion, Talipes equ...	OMIM:617333
Trisomy 13	Optic atrophy, Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormality of...	ORPHA:3378
Degcags Syndrome	Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Premature graying of hair, Hep...	OMIM:619488
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Optic disc pallor, Dysphagia, Osteopenia, Involuntary movements, Inability to w...	ORPHA:438213
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Polydipsia, Short fourth metatarsal, Mesoaxial hand polydactyly, Obes...	OMIM:615994
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Failure to thrive, Premature g...	ORPHA:3322
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan...	ORPHA:1436
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis...	ORPHA:2097
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Familial Isolated Hyperparathyroidism	Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophos...	ORPHA:99879
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Decreased skull ossification, Short neck, Multiple prenatal fractures...	OMIM:616897
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Bro...	OMIM:252600
Kearns-Sayre Syndrome	Pigmentary retinopathy, Sideroblastic anemia, Renal tubular acidosis, Renal Fanconi syndrome, Pto...	OMIM:530000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Impaired T cell function, Alopecia of scalp, Splenomegaly, Tremor, Emotional l...	OMIM:201100
Duane-Radial Ray Syndrome	Epicanthus, Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Fused ...	OMIM:607323
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydipsia, Obesity, Attenuation of retinal blood vessels, Renal insu...	OMIM:615986
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Rickets, Glycosuria, Failure to thrive, Polydipsia, Low-mo...	ORPHA:411629
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the vertebral column, Hyperbilirubinemia, Splenic cyst, Absces...	ORPHA:400
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Mental deterioration, Depression, Generalized dystonia, Dementia, Emot...	OMIM:614298
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Failure to thrive, Hype...	OMIM:609015
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Frontal balding, Hypernatriuria, Failure to thrive, Premature fusion of the radial ep...	ORPHA:90794
Trisomy 18	Deviation of finger, Narrow pelvis bone, Delayed skeletal maturation, Camptodactyly of finger, Ab...	ORPHA:3380
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Supernumerary nipple, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis,...	ORPHA:1173
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Rickets, Bulging epiphyses, Rickets of the lower limbs...	OMIM:600785
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Long eyelashes, Failure to thrive	OMIM:616069
Hypophosphatemic Bone Disease	Bowing of the legs, Hypophosphatemia, Rickets, Osteomalacia	OMIM:146350
Pmm2-Cdg	Epicanthus, Impaired neutrophil chemotaxis, Rod-cone dystrophy, Ataxia, Nephrotic syndrome, Osteo...	ORPHA:79318
Prolidase Deficiency	Failure to thrive, Facial hirsutism, Splenomegaly, Increased circulating antibody level, Low post...	OMIM:170100
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the...	ORPHA:1834
Osteopetrosis With Renal Tubular Acidosis	Tetraparesis, Pancytopenia, Proximal renal tubular acidosis, Elliptocytosis, Hypocalcemia, Abnorm...	ORPHA:2785
Melnick-Needles Syndrome	Craniofacial hyperostosis, Delayed cranial suture closure, Bowing of the long bones, Cone-shaped ...	ORPHA:2484
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Sho...	OMIM:228520
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Spasticity, Chorioretinal coloboma, Genu valgum, Hyperbilirubinemia, Emotional ...	OMIM:619475
Ermine Phenotype	Iris hypopigmentation, Toe syndactyly, Irregular hyperpigmentation, Hypopigmented skin patches, O...	ORPHA:999
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Short thorax, Umbilical hernia, Micromelia, Talip...	ORPHA:93298
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Frontal ...	OMIM:266920
Chops Syndrome	Optic atrophy, Coarse hair, Tracheomalacia, Horseshoe kidney, Long eyelashes, Thick eyebrow, Vesi...	OMIM:616368
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Nephronophthisis, Stage 5 chronic kidney disease, ...	OMIM:608629
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cellulitis...	OMIM:618986
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Optic atrophy, Spastic paraplegia, Depression, Joint stiffness, Telecant...	ORPHA:847
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Paraproteinemia, Elevated circulating creatinine con...	ORPHA:329918
Cogan Syndrome	Anemia, Conjunctivitis, Leukocytosis, Thrombocytosis	ORPHA:1467
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonem...	OMIM:251100
Vici Syndrome	Optic atrophy, Decreased circulating IgG level, Hypopigmentation of the skin, Abnormal macular mo...	ORPHA:1493
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Paraplegia, Genu valgum, Decreased body w...	OMIM:271640
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic atrophy, Decreased circulating IgG level, Decreased ci...	OMIM:612301
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Elevated circulating creatine kinase conce...	OMIM:606002
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cellulitis, Spasticity, Abnormal hair morphology, Abnormal toenail morphology, Abnormal nasolacri...	ORPHA:2526
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:169160
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Optic atrophy, Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Thrombocytopenia,...	OMIM:617710
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Spasticity, Decreased body weight, Talipes equinovarus, Large hands, Restlessness, Short foot, Ba...	OMIM:300534
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Mental deterioration, Limitation of joint mobility, Hepatosplenome...	ORPHA:217093
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Spasticity, HbH hemoglobin, Clinodactyly, Umbilical hernia, Radial deviation of fing...	OMIM:301040
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnorma...	ORPHA:2970
48,Xxxy Syndrome	Elbow dislocation, Radioulnar synostosis, Short neck, Epicanthus, Talipes equinovarus, Blepharoph...	ORPHA:96263
Leukocyte Adhesion Deficiency	Coronal craniosynostosis, Abnormality of neutrophil physiology, Bone marrow hypocellularity, Poly...	ORPHA:2968
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Biliary, Renal, Neurologic, And Skeletal Syndrome	Spasticity, Broad thumb, Hyperbilirubinemia, Dark urine, Neonatal death, Broad first metatarsal, ...	OMIM:619534
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Small hand, Increased body weight, Polyphagia, Cognitive impairme...	ORPHA:398069
Seckel Syndrome 1	Ivory epiphyses, Hypospadias, Sandal gap, Delayed skeletal maturation, Downslanted palpebral fiss...	OMIM:210600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Difficulty walking, Flexion contracture of finger, Urinary inconti...	ORPHA:466768
Immunodeficiency 61	Obesity, Decreased circulating IgG2 level, Attention deficit hyperactivity disorder, Decreased ci...	OMIM:300310
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Leptospirosis	Acute kidney injury, Macular cotton wool spot, Chorioretinitis, Conjunctival hyperemia, Optic neu...	ORPHA:509
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Thicke...	OMIM:122860
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Abnormal rib morphology, Sandal gap, Abnormal dental ename...	ORPHA:2180
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou...	OMIM:618108
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Clinodactyly, Small nail, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absen...	OMIM:264090
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Microme...	ORPHA:429
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Mosaic Trisomy 20	Narrow chest, Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Upslanted palpebral fissure,...	ORPHA:1724
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Mental deterioration, Limitation of joint mobility, Hepatosplenome...	ORPHA:217085
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:211600
Dihydropyrimidinase Deficiency	Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thymine level, El...	OMIM:222748
Viss Syndrome	Increased circulating IgE level, Recurrent joint dislocation, Genu valgum, Contracture of the pro...	OMIM:619472
Bloom Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Hypertrichosis, Decreased circulat...	OMIM:210900
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated st...	OMIM:609541
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Failure to thrive, Conjunctivitis, Hepatosplen...	OMIM:620376
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr...	OMIM:615758
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Trichorrhexis nodosa, Lymphopenia, Tiger tail banding, Brittle hair, Increased...	OMIM:616395
Chromosome 18Q Deletion Syndrome	Broad-based gait, Toe syndactyly, Overlapping toe, Epicanthus, Short neck, Talipes equinovarus, B...	OMIM:601808
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Upslanted palpebral fissure, Bone spicule pigmentation of t...	OMIM:616108
Aicardi Syndrome	Optic atrophy, Block vertebrae, Sparse lateral eyebrow, Optic disc coloboma, Butterfly vertebrae,...	OMIM:304050
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Spasticity, Toenail dysplasia, Oral-pharyngeal dysphagia, Short neck, Prominent coccyx, Talipes c...	OMIM:300966
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, White forelock, J...	ORPHA:2475
Gm1-Gangliosidosis, Type I	Cherry red spot of the macula, Hypertrichosis, Joint stiffness, Splenomegaly, Thickened ribs, Ing...	OMIM:230500
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Tip-toe gait, Failure to thrive in infancy, Equinus calcaneus, Hypocalcem...	ORPHA:746
Pediatric-Onset Graves Disease	Polydipsia, Failure to thrive, Splenomegaly, Tremor, Emotional lability, Hyperkinetic movements, ...	ORPHA:525731
Dpagt1-Cdg	Clinodactyly, Arachnodactyly, Rod-cone dystrophy, Ataxia, Head-banging, Inability to walk, Diffus...	ORPHA:86309
Christian Syndrome	Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused...	OMIM:309620
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Mental deterioration, Generalized dystonia, Dementia, Inability to...	ORPHA:52368
Parkinson Disease 14, Autosomal Recessive	Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation...	OMIM:612953
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Large for gestational age, Hy...	OMIM:616026
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Chorioretinal coloboma, Thoraci...	OMIM:613702
Infantile Systemic Hyalinosis	Osteopenia, Failure to thrive, Micromelia, Osteomalacia, Camptodactyly of finger, Joint stiffness...	ORPHA:2176
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Abnormal lymphocyte morphology, ...	ORPHA:3162
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Cone-shaped epiphy...	OMIM:617781
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Multicystic kidney dysplasia, Failure to thrive, Speech apraxia, O...	ORPHA:261197
Sandifer Syndrome	Abnormal posturing, Decreased cervical spine mobility, Hiatus hernia, Torticollis, Anemia	ORPHA:71272
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Ataxia, Inguinal hernia, Attention deficit hyperactivity disorder, Brachydactyly, Cli...	OMIM:617062
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne...	OMIM:612286
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Joint stiffness, Tremor, Elevated circulating creatine kinase con...	ORPHA:209335
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Difficulty walking, Lymphopenia, Decreased ci...	OMIM:612782
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Alopecia, Failure to thrive, Bilateral ptosis, Decreased circula...	OMIM:620040
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy,...	OMIM:619127
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne...	OMIM:612287
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Delayed skeletal matur...	ORPHA:3068
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment, Hypertonia, Flexion con...	ORPHA:141
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Nephropathy, Chorioretinal coloboma, Umbilical hernia, Abnormality of retinal pigmentation, Ingui...	ORPHA:2196
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Broad clavicles, Rhizomelic arm shortening, Lymphopenia, Leukopenia,...	ORPHA:508542
Igg4-Related Ophthalmic Disease	Abnormal morphology of bony orbit of skull, Enlarged lacrimal glands, Abnormal optic nerve morpho...	ORPHA:449563
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Failure to thrive, Broad ribs, Joint stiffness, Genu valgum, Splenomegaly, ...	ORPHA:583
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Spasticity, Failure to thrive, Inability to walk, Chorea, Short attention span, Irritability, Hyp...	OMIM:617864
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Cleidocranial Dysplasia	Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ...	ORPHA:1452
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Osteopenia, Thin ribs, Thin metatarsal cortices, Small hypothenar eminence,...	ORPHA:2463
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Sparse body hair, Ob...	ORPHA:2234
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Robinow Syndrome	Multicystic kidney dysplasia, Small nail, Mesomelic arm shortening, Syndactyly, Radioulnar disloc...	ORPHA:97360
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymp...	OMIM:616084
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Spasticity, Failure to thrive, Irritability, Lower limb spasticity, Clonus, Hypert...	OMIM:616881
Familial Congenital Mirror Movements	Clumsiness, Poor fine motor coordination, Cerebral palsy, Fused cervical vertebrae	ORPHA:238722
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Pectus carinatum, Kyphosis, Joint stiffness, Genu valgum, Abnormality of retinal p...	ORPHA:394
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ...	ORPHA:95699
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, P...	ORPHA:411634
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Lethargy, 4-Hydroxyph...	OMIM:617156
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Chondrocalcinosis, Hypocalciuria, Depression, Osteomalacia, Multiple small medul...	OMIM:600740
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Upslanted palpebral fissure, Vertebral segmentation defect, Missing ribs...	ORPHA:1797
Cantú Syndrome	Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Epicanthus, Short h...	ORPHA:1517
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Ver...	OMIM:610967
Leukodystrophy, Hypomyelinating, 24	Tongue fasciculations, Flexion contracture, B lymphocytopenia	OMIM:619851
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs ...	OMIM:259440
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Small for gestational age, Thor...	OMIM:166210
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec...	OMIM:618395
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Joint hypermobility, Missi...	ORPHA:2759
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
X-Linked Cerebral Adrenoleukodystrophy	Mental deterioration, Difficulty walking, Hamstring contractures, Hemiparesis, Ataxia, Spastic te...	ORPHA:139396
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Aicardi-Goutieres Syndrome 7	Nephrotic syndrome, Tetraparesis, Increased circulating ferritin concentration, Pancytopenia, Spl...	OMIM:615846
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Hydronephrosis,...	OMIM:271520
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Spasticity, Osteomalacia, Bilateral single transverse palmar creases, Short neck, Abnormal metaca...	ORPHA:2636
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Hypertrichosis, Butterfly vertebrae, Low posterior hairline, Attention...	OMIM:619227
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t...	ORPHA:1836
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Hypocalcemic ...	ORPHA:93324
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Small hand, Decreased body weight, Ataxia, Short foot, Motor stereotypy, Dysphagia, D...	OMIM:619229
Lowry-Wood Syndrome	Pigmentary retinopathy, Shallow acetabular fossae, Multiple joint dislocation, Small for gestatio...	OMIM:226960
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Abnormal te...	ORPHA:398079
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Brachioradialis areflexia, Spasticity, Rhizomelia, Leukopenia, Myoclonus, Tremor, 3-Methy...	OMIM:616271
Chromosome 16P13.3 Duplication Syndrome	Epicanthus, Short neck, Small thenar eminence, Narrow palpebral fissure, Hip dislocation, Short t...	OMIM:613458
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physi...	ORPHA:99867
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary nipple, Inguinal hernia, Joint hypermobility, Supernumerary ribs, Epicanthus, Six l...	OMIM:619122
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Rickets, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hyperca...	OMIM:602722
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Hardikar Syndrome	Pigmentary retinopathy, Hydroureter, Failure to thrive, Umbilical hernia, Hepatosplenomegaly, Hyp...	OMIM:301068
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Spasticity, Small nail, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Blepharophimosis, Sel...	ORPHA:544488
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Failure to thrive, Delayed skeletal maturation, Obesity, Polyphagia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Failure to thrive, Delayed skeletal maturation, Obesity, Polyphagia...	ORPHA:71526
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Retinopath...	ORPHA:251380
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Caffey Disease	Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Increased circula...	ORPHA:1310
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Increased circulating IgE ...	ORPHA:634
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Babinski sign, Spasticity, Abnormal pyramidal sign, Abnormality of retinal pigmentation	ORPHA:397951
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis	OMIM:144200
Hyperlysinemia	Opisthotonus, Spastic tetraparesis, Dysphagia, Argininuria, Hypoornithinemia, Hyperlysinuria, Tip...	ORPHA:2203
Mulibrey Nanism	Thickened cortex of long bones, Pigmentary retinopathy, Enamel hypoplasia, Single transverse palm...	OMIM:253250
Micro Syndrome	Optic atrophy, Spasticity, Retinal coloboma, Joint stiffness, Abnormality of retinal pigmentation...	ORPHA:2510
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Proteinuria, Mucopolysacchariduria, Generalized bone demineraliz...	OMIM:215250
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
49,Xxxxy Syndrome	Elbow dislocation, Overfriendliness, Radioulnar synostosis, Short neck, Epicanthus, Talipes equin...	ORPHA:96264
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Neonatal Adrenoleukodystrophy	Optic atrophy, Ptosis, Abnormality of retinal pigmentation, Bilateral single transverse palmar cr...	ORPHA:44
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Premature graying of hair, Pancy...	OMIM:613989
Legius Syndrome	Inguinal freckling, Acute monocytic leukemia, Male urethral meatus stenosis, Abnormal sternum mor...	ORPHA:137605
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ...	ORPHA:1486
Wiedemann-Steiner Syndrome	Clinodactyly, Generalized hirsutism, Epicanthus, Motor stereotypy, Dysphagia, Abnormality of the ...	ORPHA:319182
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Broad thumb, Delayed cranial suture closure, Incoordination, Hypoplastic i...	OMIM:180849
Monosomy 18Q	Failure to thrive, Delayed skeletal maturation, Downslanted palpebral fissures, Slender build, De...	ORPHA:1600
Bardet-Biedl Syndrome 3	Renal hypoplasia, Pigmentary retinopathy, Obesity, Postaxial polydactyly, Brachydactyly, Rod-cone...	OMIM:600151
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Small for gestational age, Failure to thrive, Decreased adipose tissue ar...	OMIM:606721
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Supernumerary nipple, Downslant...	OMIM:263750
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of retinal pigmentation, Abnormality of the hand, Uncombable ha...	ORPHA:1264
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Abnormal form of the vertebral bodies, Abnormal rib morphology, Camptodactyly of fin...	ORPHA:2311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Exaggerate...	OMIM:253800
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Kyphosis, Finger syndactyly, Melanocytic nevus, Abnormality of retinal p...	ORPHA:1969
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Occipital Horn Syndrome	Genu valgum, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:304150
12Q14 Microdeletion Syndrome	Renal hypoplasia, Failure to thrive, Horseshoe kidney, Abnormality of the spleen, Thick eyebrow, ...	ORPHA:94063
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti...	OMIM:601559
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Upslanted palpebral fissure, Splenomegaly, Tibial bowing, Bowing of the long bones...	ORPHA:3035
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Abnormal hip bone morphol...	ORPHA:2720
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov...	OMIM:253200
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Lymphopenia, Abnormal metaphysis morphology, Inguinal hernia, Agammaglobul...	ORPHA:935
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragm...	ORPHA:818
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Micromelia, Umbilical hernia, Multiple rib fractu...	ORPHA:93299
Mucolipidosis Type Ii	Dry hair, Limitation of joint mobility, White hair, Hepatosplenomegaly, Hip contracture, Epicanth...	ORPHA:576
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Decreased circulat...	OMIM:618116
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis	ORPHA:65
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, Panniculitis...	OMIM:301081
Chilblain Lupus	Chronic myelomonocytic leukemia, Finger swelling, Increased circulating antibody level	ORPHA:90280
Waardenburg Syndrome, Type 1	Hypopigmentation of the fundus, Supernumerary vertebrae, Premature graying of hair, Partial albin...	OMIM:193500
Hypercholanemia, Familial 1	Steatorrhea, Rickets, Failure to thrive, Increased serum bile acid concentration	OMIM:607748
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Small nail, Thumb c...	ORPHA:96334
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Nephrocalcinosis, Slender long bone, Delayed skeletal maturation, Upper limb undergro...	ORPHA:369837
Wildervanck Syndrome	Pseudopapilledema, Fused cervical vertebrae	OMIM:314600
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Hypopigmented skin patches, Thoracic hypoplasia, Downslanted palpebral fissures, Dec...	ORPHA:457485
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Short attention span, Abnormal rib morphology, Dysphagia, Impulsivity	ORPHA:280195
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Low posterior hairline, Short neck, Dislocated radial head, Ecto...	OMIM:122470
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Holt-Oram Syndrome	Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A...	ORPHA:392
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal ...	ORPHA:99750
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Proximal muscle weakness in upper limbs, Difficulty walking, Large for gestational age...	ORPHA:169189
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Epicanthus, Short...	OMIM:609945
Frontometaphyseal Dysplasia 2	Broad thumb, Hip contracture, Talipes equinovarus, Dislocated radial head, Short metacarpal, Fuse...	OMIM:617137
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Corneal scarring, Increased susceptibility to fractures, Abnormali...	ORPHA:90354
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Periodic hypokalemic paresis, Urinary retention, Hypomagnesemia, Obesity, T...	ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Difficulty walking, Gait ataxia, Myoclonus, Appendicular spasticity, Hyperprolinem...	OMIM:620451
Intellectual Disability, Buenos-Aires Type	Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic girdle bone morph...	ORPHA:3079
Cooper-Jabs Syndrome	Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Congenital diaphragmatic...	ORPHA:1488
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D...	OMIM:605911
Hallermann-Streiff Syndrome	Thin ribs, Chorioretinal coloboma, Sparse eyelashes, Sparse hair, Choreoathetosis, Abnormal rib c...	OMIM:234100
Insulin Autoimmune Syndrome	Weight loss, Increased circulating antibody level, Arthralgia/arthritis	ORPHA:411593
Cranioectodermal Dysplasia 2	Clinodactyly, Hyperbilirubinemia, Sparse eyelashes, Epicanthus, Short neck, Blepharophimosis, Nar...	OMIM:613610
Kagami-Ogata Syndrome	Thin ribs, Short palpebral fissure, Bell-shaped thorax, Splenomegaly, Inguinal hernia, Kyphoscoli...	OMIM:608149
Gracile Bone Dysplasia	Thin ribs, Failure to thrive, Flared metaphysis, Slender long bone, Hypocalcemia, Decreased skull...	OMIM:602361
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Congenital diaphragmatic hernia, Low posterior hairline, Epicanthu...	ORPHA:280
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs,...	OMIM:615633
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Compulsive behavio...	OMIM:619405
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Angelman Syndrome	Broad-based gait, Polyphagia, Ataxia, Optic disc pallor, Dysphagia, Self-injurious behavior, Hypo...	ORPHA:72
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Asparagine Synthetase Deficiency	Hypoasparaginemia, Failure to thrive, Tremor, Irritability, Clonus, Limb hypertonia, Hypertonia, ...	OMIM:615574
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatosplenomegaly, Genu valgum, Epicanthus, Talipes equinovarus, Motor stereotypy, Hip dislocati...	OMIM:301066
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Short distal phalanx of finger, Pigmentary retinopathy, Renal...	OMIM:118450
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Emotional lability, Irritability, Bab...	OMIM:608643
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Nephropathy, Decreased specific anti-polysaccharide antibody leve...	OMIM:301000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, Epicanthus...	OMIM:242860
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Spastic paraparesis, Polycythemia, Increased total...	ORPHA:309854
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Multiple joint contractures, A...	ORPHA:320406
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Missing ribs, Supernumerary rib...	OMIM:206900
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Vitiligo, Decreased circulating IgA level, Ju...	ORPHA:275
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Confusion, Reti...	OMIM:274150
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Rachitic rosary, Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hy...	OMIM:612089
Cat-Eye Syndrome	Abnormal rib morphology, Chorioretinal coloboma, Downslanted palpebral fissures, Hydronephrosis, ...	ORPHA:195
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypertonia, Abnormal eyelash morphology, Scol...	ORPHA:2518
Desmoid Tumor	Hydronephrosis, Limitation of joint mobility, Abnormality of retinal pigmentation, Osteolysis	ORPHA:873
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt...	ORPHA:2876
Dysosteosclerosis	Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver...	OMIM:224300
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Incontinentia Pigmenti	Spasticity, Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Onych...	OMIM:308300
Neu-Laxova Syndrome	Osteopenia, Rickets, Arthrogryposis multiplex congenita, Micromelia, Osteomalacia, Pterygium, Abn...	ORPHA:2671
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Retinitis Pigmentosa 51	Macular degeneration, Obesity, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pi...	OMIM:613464
Wildervanck Syndrome	Low posterior hairline, Short neck, Pseudopapilledema, Fused cervical vertebrae	ORPHA:3456
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Cognitive impairment, Ataxia, Bradykinesia, Dysphagia, Depression, Cogwheel rigid...	ORPHA:254892
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Abnormal form of the vertebral bodies, Elbow dislocatio...	ORPHA:2769
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thoracic hypoplasia...	OMIM:613848
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Supernumerary nipple, Abnormal tibia morphology, Upper limb asymmet...	ORPHA:64755
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
X-Linked Creatine Transporter Deficiency	Chorea, Self-mutilation, Joint hypermobility, Cachexia, Ptosis, Hyperactivity, Hypertonia, Ataxia...	ORPHA:52503
Dyskeratosis Congenita	Hypopigmented skin patches, White hair, Premature graying of hair, Displacement of the urethral m...	ORPHA:1775
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Single transverse palm...	OMIM:618541
Mucolipidosis Type Iv	Genu recurvatum, Palmoplantar keratoderma, Abnormality of retinal pigmentation, Retinopathy, Gait...	ORPHA:578
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Delayed skeletal maturation, Persistence of hemoglobin F, Macrocytic...	OMIM:620501
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Opisthotonus, Short neck, Talipes equinovarus, Long clavicl...	OMIM:269150
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Spasticity, Failure to thrive, Chorea, Gait ataxia, Low pl...	ORPHA:255210
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Flexion contracture of finger, Short foot, Sparse hair...	OMIM:601812
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Epicanthus, Limb hypertonia, Hypertonia, Exag...	OMIM:618056
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Gapo Syndrome	Asymmetry of the thorax, Optic atrophy, Alopecia, Sparse eyebrow, Abnormal clavicle morphology, A...	ORPHA:2067
Combined Oxidative Phosphorylation Deficiency 18	Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei, Dysmetria, Tremor, Macrocytic anemia	OMIM:615578
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Finger syndactyly, Micromelia, Brachydactyly, Split hand, Abnormal ri...	ORPHA:2145
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Methemoglobinemia, Opisthotonus, Hypertonia	OMIM:250800
Alkaptonuria	Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D...	OMIM:203500
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Supernumerary nipple, Congenital diaphragmatic hernia, Epicanthus, Talipes equinovar...	OMIM:312870
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hypophosphatemic rickets, Tremor, Proteinuria, Increased b...	ORPHA:263455
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Bloom Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Decreased circulating IgA level, D...	ORPHA:125
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Sandhoff Disease	Urinary incontinence, Spasticity, Cherry red spot of the macula, Fasciculations, Progressive psyc...	OMIM:268800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Self-injurious behav...	ORPHA:98793
Nestor-Guillermo Progeria Syndrome	Thin ribs, Limited elbow movement, Sparse eyelashes, Alopecia, Sparse eyebrow, Spotty hyperpigmen...	OMIM:614008
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Self-injurious behav...	ORPHA:177904
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio...	ORPHA:968
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Rod-cone dystrophy, Ataxia, Foot polydactyly, Short foot, Retinal dys...	OMIM:209900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Self-injurious behav...	ORPHA:177901
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Downslante...	ORPHA:2021
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst, Elevated circulating creatine kinase co...	OMIM:109130
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Overlapping fingers, B lymphocytopenia, Micropenis, T ly...	OMIM:615966
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Opt...	OMIM:608940
Thoracolaryngopelvic Dysplasia	Slender build, Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, S...	OMIM:187760
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Osteopenia, Small hand, Hypopigmentation of the skin, Self-injurious behav...	ORPHA:98754
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Alopecia, Short distal phalanx of finger, Hypopigmented skin patches,...	ORPHA:1647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Inability to walk, Speech apraxia, Chorea, Tremor, Elevated circulating creat...	OMIM:615356
Blindness-Scoliosis-Arachnodactyly Syndrome	Arachnodactyly, Scoliosis, Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Stiff neck, Gait ataxia, Cervical C2/C3 vertebral fusion, Babinski...	ORPHA:268882
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma...	OMIM:263400
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Gait imbalance, A...	ORPHA:411511
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Gaucher Disease Type 3	Delayed skeletal maturation, Dementia, Pancytopenia, Splenomegaly, Increased susceptibility to fr...	ORPHA:77261
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Glycosuria, Failure to thrive, Tremor, Renal tubular dysfunction, 2-3 toe syndactyly,...	OMIM:616539
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Septic arthritis, Conjunctivitis, Decreased circulating IgA leve...	OMIM:300755
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Spasticity, Restlessness, Retinal pigment epithelial mottling	OMIM:619517
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Triosephosphate Isomerase Deficiency	Normocytic anemia, Spasticity, Kyphosis, Failure to thrive, Splenomegaly, Macrocytic anemia, Trem...	OMIM:615512
Parathyroid Carcinoma	Nephrocalcinosis, Chondrocalcinosis, Polydipsia, Renal hamartoma, Lipoma, Renal insufficiency, Ne...	ORPHA:143
Fanconi Renotubular Syndrome 3	Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-...	OMIM:615605
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist...	ORPHA:73230
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Short palpebral fissure, Hand clenching, Decreased circulating IgA level, Long eye...	OMIM:606056
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Arachnodactyly, Talipes equinovarus, Minim...	OMIM:182212
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio...	OMIM:179800
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Shor...	OMIM:614230
Williams Syndrome	Synostosis of joints, Spasticity, Genu valgum, Overfriendliness, Radioulnar synostosis, Epicanthu...	ORPHA:904
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Sparse eyebrow, Narrow chest, Fine hair, Dec...	OMIM:614748
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha...	OMIM:184460
O'Sullivan-Mcleod Syndrome	Hand muscle weakness, Fasciculations, Tremor, Increased circulating antibody level, Intrinsic han...	ORPHA:99965
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Overlapping toe, Short neck, Bilateral talipes equinovarus, Short foot,...	ORPHA:177907
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Failure to thrive, Polyspleni...	OMIM:306955
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnor...	ORPHA:5
Argininemia	Spastic paraparesis, Frequent falls, Oroticaciduria, Hyperammonemia, Hyperargininemia, Irritabili...	OMIM:207800
Pontine Tegmental Cap Dysplasia	Failure to thrive, Dysmetria, Ankle clonus, Rib fusion, Head titubation, Oculomotor apraxia, Ptos...	OMIM:614688
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Abnormal toenail morphology, Curly hair, Hypospadias, ...	ORPHA:444077
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal optic nerve morphology, Increased circulating IgG4 level, Opti...	ORPHA:79078
Inflammatory Skin And Bowel Disease, Neonatal, 1	Paronychia, Failure to thrive, Increased circulating IgE level, Blepharitis, Onychogryposis	OMIM:614328
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Generalized hirsutism, Epicanthus, Pol...	ORPHA:1606
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing...	ORPHA:1507
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Spastic Tetraplegia And Axial Hypotonia, Progressive	Fasciculations, Overlapping toe, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb...	OMIM:618598
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Downslanted palpebral fissures, Sh...	ORPHA:85184
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Hypop...	ORPHA:2772
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Small for gestational age, Rhizomelia, Decreased calvari...	OMIM:616229
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Alexander Disease	Self-injurious behavior, Osteopenia, Spasticity, Depression, Failure to thrive, Chorea, Emotional...	ORPHA:58
Riddle Syndrome	Enuresis nocturna, Decreased circulating IgG level, Poor hand-eye coordination, Decreased circula...	ORPHA:420741
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Abnormal optic disc morphology, Short neck, Polyphagia, Narrow p...	ORPHA:96121
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia, Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Brittle Cornea Syndrome 1	Congenital hip dislocation, Atypical scarring of skin, Dentinogenesis imperfecta, Spondylolisthes...	OMIM:229200
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Congenital diaphragmatic hernia, Epicanthus, Tarsal synostosis, Short foot, Fu...	OMIM:157800
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Abnormality of circulating ...	ORPHA:320
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Pigmentary retinopathy, Nephrocalcinosis, Vitiligo, Nail dystroph...	OMIM:240300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di...	OMIM:300863
Lethal Congenital Contracture Syndrome 10	Narrow chest, Downslanted palpebral fissures, Stiff neck, Broad ribs, Overlapping fingers, Femora...	OMIM:617022
Stiff Person Spectrum Disorder	Falls, Difficulty walking, Lumbar hyperlordosis, Emotional lability, Rigidity, Exaggerated startl...	ORPHA:3198
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Bowing of limbs due to multipl...	OMIM:259420
Lethal Congenital Contracture Syndrome 5	Thin ribs, Congenital contracture, Elevated circulating creatine kinase concentration, Retinal he...	OMIM:615368
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Tapered toe, Shoulder flexion contracture, Thoracic hypoplasia, Slender long bone, Dow...	OMIM:620369
Cerebrofaciothoracic Dysplasia	Narrow chest, Coarse hair, Downslanted palpebral fissures, Thick eyebrow, Vertebral segmentation ...	ORPHA:1394
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Low posterior hairline, Short neck, Abnormal rib morphology, Ectop...	ORPHA:2578
Primary Sjögren Syndrome	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increased circulating antibody ...	ORPHA:289390
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Small nail, Persistent open anterior fontanelle, Slender ...	OMIM:620601
Bile Acid Conjugation Defect 1	Rickets, Conjugated hyperbilirubinemia	OMIM:619232
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Mosaic Trisomy 8	Narrow chest, Hypopigmentation of the skin, Limitation of joint mobility, Hypopigmented skin patc...	ORPHA:96061
Hypotrichosis Simplex Of The Scalp	Fine hair, Increased circulating IgE level, Alopecia of scalp, Slow-growing scalp hair, Sparse sc...	ORPHA:90368
Joubert Syndrome With Hepatic Defect	Nephropathy, Highly arched eyebrow, Multicystic kidney dysplasia, Optic disc coloboma, Chorioreti...	ORPHA:1454
Alagille Syndrome	Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Delaye...	ORPHA:52
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Depression, Stage 5 chronic kidn...	ORPHA:94059
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ...	OMIM:173800
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula, Chorea, Pr...	ORPHA:309246
Aicardi-Goutières Syndrome	Spasticity, Neonatal alloimmune thrombocytopenia, Spastic paraparesis, Difficulty walking, Hepato...	ORPHA:51
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hip dislocation, Hypoplastic scapulae, Abnormal clavicle morphology,...	ORPHA:958
Trichinellosis	Memory impairment, Abnormal optic nerve morphology, Central retinal artery occlusion, Hemiplegia,...	ORPHA:863
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Neonatal death, Epicanthus, Short neck, Short foot, Short toe, Horizontal r...	OMIM:269860
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyphosis, Thin ...	OMIM:616294
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis, Abnormality of retinal pigmentation, Fingernail dysplasia	ORPHA:1259
Schinzel-Giedion Syndrome	Spasticity, Abnormality of the ureter, Overlapping toe, Overlapping fingers, Radioulnar synostosi...	ORPHA:798
Monosomy 9Q22.3	Palmar pits, Abnormality of the vertebral column, Abnormal rib morphology, Downslanted palpebral ...	ORPHA:77301
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Abnormality of humoral immunity, Painless fractures due to injury, Diffic...	ORPHA:642
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Selective Igm Deficiency	Cellulitis, Decreased proportion of transitional B cells, Rheumatoid arthritis, Cutaneous abscess...	ORPHA:331235
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Splenomegaly, Eosinophilia, Cachexia, Increased circulating interleukin 6 concen...	ORPHA:75565
Renal Tubular Acidosis Iii	Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithia...	OMIM:267200
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Gabriele-De Vries Syndrome	Sparse eyebrow, Tip-toe gait, Sandal gap, Downslanted palpebral fissures, Telecanthus, Frontal up...	OMIM:617557
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph...	OMIM:208500
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormality of the nail, Popliteal pterygium, Ankyloblepharon, Toe syndactyly, Finger syndactyly,...	ORPHA:1300
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Abnormal dental enamel mor...	ORPHA:2050
Usher Syndrome	Depression, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Cognitive imp...	ORPHA:886
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Telecanthus, Short attention span, Upslanted palpebral fissure, Epicant...	ORPHA:438216
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Hypospadias, Upslanted palpebral fissure, Abnormal rib morphology	ORPHA:276422
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Abnormality of thrombocytes, Abnormal optic ...	ORPHA:79430
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Chondrocalcinosis, Polydipsia, Renal hamartoma, Lipoma, Renal insufficiency, Ne...	ORPHA:99880
Developmental And Epileptic Encephalopathy 68	Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response, Flexion contracture	OMIM:618201
Acute Intermittent Porphyria	Mental deterioration, Proximal muscle weakness in upper limbs, Depression, Memory impairment, Uri...	ORPHA:79276
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Increased circulating antibody level, Lethargy, Thrombocytopenia, Dysphagia	ORPHA:319218
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Falls, Progressive extrapyramidal m...	ORPHA:240071
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding,...	OMIM:601675
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Facial paralysis, Frac...	OMIM:166600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Small hand, Epicanthus, Short neck, Short foot, Dysphagia, ...	ORPHA:280633
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Delayed skeletal maturation, Slender...	OMIM:612921
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Metaphyseal striations, Bone pain	OMIM:615139
Sclerosteosis 1	Optic atrophy, Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Faci...	OMIM:269500
Prader-Willi Syndrome	Osteopenia, Small hand, Hypopigmentation of the skin, Failure to thrive, Increased susceptibility...	ORPHA:739
Apert Syndrome	Optic atrophy, Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Downslanted palpebral ...	ORPHA:87
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Cerebral palsy, Decreased circulating renin level, Hypokalemia, Nephrolithiasis, Prim...	OMIM:615474
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Long eyelashes, Femoral bowing, Biconcave vertebral bodies, Joint hy...	OMIM:617952
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Enamel agenesis, Cone/...	OMIM:217080
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449432
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Hypopigmented skin patches, Carpal synostosis, P...	ORPHA:53271
Kikuchi-Fujimoto Disease	Ataxia, Alopecia, Anorexia, Leukopenia, Splenomegaly, Lymphocytosis, Weight loss, Elevated circul...	ORPHA:50918
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Ellis Van Creveld Syndrome	Acute leukemia, Synostosis of carpal bones, Abnormal hair morphology, Abnormality of the ureter, ...	ORPHA:289
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re...	OMIM:179830
Sarcoidosis	Weight loss, Tubulointerstitial nephritis, Dacryocystitis, Alopecia, Hypopigmentation of the skin...	ORPHA:797
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Chordee, Di...	OMIM:151050
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Abnormal circ...	ORPHA:199351
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Downslanted palpebral fissures, Congenital diaphragmatic hernia, Macrocytic anemia, ...	OMIM:614294
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
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	Loose anagen hair, Epicanthus, Short neck, Curly hair, Sparse hair, Downslanted palpebral fissure...	OMIM:607721
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy, Smal...	OMIM:218030
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Downslanted palpebral fiss...	ORPHA:83
Trisomy 1Q	Aplasia/Hypoplasia of the nails, Multicystic kidney dysplasia, Toe syndactyly, Abnormal rib morph...	ORPHA:261344
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypopigmented skin patches, Failure to thrive, Sacral dimple, Abnormal...	ORPHA:2556
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Elevated circulating creatine kinase concentration, Retina...	OMIM:613154
Obesity And Hypopigmentation	Red hair, Obesity, Polyphagia	OMIM:620195
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Hyperbilirubinemia, Granuloma, Increased circulating IgM level	ORPHA:562639
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Irritability, Hyposthenuria, Red...	OMIM:300539
Monosomy 9P	Limitation of joint mobility, Congenital diaphragmatic hernia, Bilateral single transverse palmar...	ORPHA:261112
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Bilateral single transver...	ORPHA:1120
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Unilateral renal agenesis, Narrow chest, Metaphyseal spurs,...	OMIM:618188
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Cognitive impairment, A...	ORPHA:99027
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Abnormal pyramidal sign, Anorexia, Ataxia, Tip-toe gait, Lacticacidu...	ORPHA:3008
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Ar...	OMIM:600920
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Spasticity, Long eyelashes, Thick eyebrow, Myoclonus, Hyperactivity, Facial-lingua...	OMIM:617281
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Obesity, Postaxial polydactyly, Renal cyst, Rod-cone dystrophy, Hypospadi...	OMIM:605231
Acquired Methemoglobinemia	Confusion, Methemoglobinemia	ORPHA:464453
Mend Syndrome	Failure to thrive, Broad hallux, Elevated 8(9)-cholestenol, Telecanthus, Overlapping toe, Upslant...	ORPHA:401973
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Weight loss, Keratoconjunctivitis sicca, Steatorrh...	ORPHA:309031
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Failure to thrive, Abnormal macular morphology, Downsl...	ORPHA:263508
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor...	OMIM:620076
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Lethargy, Hypophosph...	ORPHA:469
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Vitreous floa...	OMIM:619698
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F	OMIM:619769
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Urinary incontinence, Abnormal pelvic girdle bone morphology, Resting tremor,...	OMIM:601162
Alkaptonuria	Aminoaciduria, Abnormality of the nail, Irregular hyperpigmentation, Joint dislocation, Elevated ...	ORPHA:56
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Broad palm, Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy	OMIM:268020
Kindler Epidermolysis Bullosa	Atypical scarring of skin, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, ...	ORPHA:2908
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Abnormal eyelid morph...	ORPHA:2221
Alport Syndrome 3A, Autosomal Dominant	Nephritis, Nephrocalcinosis, Stage 5 chronic kidney disease, Renal insufficiency, Hematuria, Prot...	OMIM:104200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Delayed skeletal maturation, Breast hypoplasia, Obesity, Rod-cone dystrop...	ORPHA:2235
Joubert Syndrome 8	Pigmentary retinopathy, Obesity, Oculomotor apraxia, Ptosis, Hypertonia, Ataxia, Optic disc pallor	OMIM:612291
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Abnormal penis morphology, Short palpebral fissure, Abn...	ORPHA:2588
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B l...	OMIM:601495
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Failure to thrive, Delayed skeletal maturation, D...	ORPHA:90793
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,...	ORPHA:370930
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Hypocalcemia, Vocal cord paralysis, Abnormality of the ocular a...	ORPHA:64744
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Delayed skeletal maturation	OMIM:618985
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Radial he...	OMIM:146510
Niemann-Pick Disease Type C	Mental deterioration, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal...	ORPHA:646
Birt-Hogg-Dubé Syndrome	Multiple lipomas, Abnormality of retinal pigmentation	ORPHA:122
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Sandhoff Disease, Infantile Form	Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Myoclonus, Exaggerated startle res...	ORPHA:309155
Fryns Syndrome	Thin ribs, Joint contracture of the hand, Small nail, Short neck, Blepharophimosis, Narrow palpeb...	OMIM:229850
Yellow Fever	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, L...	ORPHA:99829
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Narrow pelvis bone, Broad ribs...	OMIM:600002
Generalized Arterial Calcification Of Infancy	Choroidal neovascularization, Nephrocalcinosis, Osteomalacia, Cortical nephrocalcinosis, Failure ...	ORPHA:51608
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Vesicoureteral reflux, Decreased calvarial ossification, Hydronephr...	OMIM:618265
Jalili Syndrome	Abnormal dental enamel morphology, Optic atrophy, Amelogenesis imperfecta, Abnormality of retinal...	ORPHA:1873
Gerstmann-Straussler Disease	Spasticity, Depression, Memory impairment, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity,...	OMIM:137440
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Thin ribs, Arachnodactyly, Epicanthus, Talipes equinovarus, Ret...	OMIM:225400
Q Fever	Granuloma, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level,...	ORPHA:781
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Alopecia, Long penis, Decreased circulating renin...	ORPHA:90795
Sotos Syndrome	Abnormal vertebral morphology, Small nail, Hip contracture, Talipes equinovarus, Large hands, Acu...	ORPHA:821
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Frontal balding, Elevated circu...	OMIM:602668
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Immunodeficiency 68	Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Heimler Syndrome 1	Retinal pigment epithelial mottling, Leukonychia, Amelogenesis imperfecta, Enamel hypoplasia, Mac...	OMIM:234580
Retinitis Pigmentosa	Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation...	ORPHA:791
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Functional abnormality of the bladder, Delayed skeletal maturation, Lymphopenia, Hepa...	ORPHA:391487
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u...	ORPHA:887
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Ptosis	ORPHA:1067
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Obesity, Hyperbilirubinemia, Polyphagia, Decreased circulating cortisol level, Red hair	OMIM:609734
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level	ORPHA:723
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Nail dystrophy, B l...	OMIM:620133
Menkes Disease	Spasticity, Hernia, Bowing of the long bones, Tarsal synostosis, Sparse hair, Atypical scarring o...	ORPHA:565
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Micromelia, Horizontal ribs, Short ribs, Pos...	OMIM:617895
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cellulitis, Failure to thrive, Lymphocytosis, Thrombocytopenia, E...	OMIM:617718
Charge Syndrome	Lymphopenia, Radial head subluxation, Absent radius, Bilateral talipes equinovarus, Hand monodact...	OMIM:214800
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Corpus Callosum Agenesis-Neuronopathy Syndrome	Craniosynostosis, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis	ORPHA:1496
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o...	ORPHA:352731
Fructose Intolerance, Hereditary	Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Failure to thrive, Hyperbilirubinemia,...	OMIM:229600
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Brac...	ORPHA:79414
Zttk Syndrome	Spasticity, Small hand, Epicanthus, Curly hair, Short foot, Sparse eyebrow, Downslanted palpebral...	OMIM:617140
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Sparse eyebrow, Narrow chest, Unicoronal synostosis, Short tibia, Rhizomelia, P...	OMIM:616300
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Multicystic kidney dysplasia, Fibular aplasia, Arachnodactyly, Epi...	OMIM:300373
Craniometadiaphyseal Dysplasia	Osteopenia, Flared metaphysis, Downslanted palpebral fissures, Broad long bones, Broad ribs, Scle...	OMIM:269300
8Q24.3 Microdeletion Syndrome	Epicanthus, Short neck, Short hallux, Tics, Dysphagia, Short 5th finger, Bilateral renal hypoplas...	ORPHA:508488
Hypophosphatasia, Adult	Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu...	OMIM:146300
Campomelia, Cumming Type	Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of...	ORPHA:1318
Pseudo-Torch Syndrome 2	Thin ribs, Lethargy, Abnormal renal corticomedullary differentiation, Thrombocytopenia	OMIM:617397
Listeriosis	Abnormal cellular immune system morphology, Acute kidney injury, Brain abscess, Stiff neck, Osteo...	ORPHA:533
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Tongue thr...	ORPHA:98795
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Grade III vesicoureteral reflux, Urethral stricture, Epicanthus, Chordee, Narrow palpebral fissur...	OMIM:619522
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Decreased circulating ...	OMIM:201750
Thakker-Donnai Syndrome	Upslanted palpebral fissure, Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Lo...	ORPHA:1780
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Bone spicule pigmentat...	OMIM:617547
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Hypocalciuria, Hypomagnesiuria, Osteo...	ORPHA:405
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Cutaneous abscess, Increased circulating IgE level, Joint hypermobility, Eosinophilia...	OMIM:147060
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Dementia, Postural tremor, Gait ataxia, Cogw...	OMIM:600116
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Tremor, Hydronephrosis, Limb hypertonia, Exaggerated startle response, Limb joint...	OMIM:620327
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone ...	OMIM:268315
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypercalciuria, P...	OMIM:613677
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Polycystic kidney dysplasia, Cone-shaped epiphysis, Thoracic hypoplasia, Fem...	OMIM:613091
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Epicanthus, Brittle hair, Ataxia, Foot polydacty...	ORPHA:2750
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Delayed skeletal maturation, Panhypogammaglobulinemia, Absent circulating ...	OMIM:307200
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Depression, Exaggerated startle response	OMIM:620114
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg...	ORPHA:3109
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Cysticercosis	Mental deterioration, Abnormal optic chiasm morphology, Memory impairment, Abnormality of the ver...	ORPHA:1560
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Missing rib...	ORPHA:3301
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Spasticity, Arachnodactyly, Epicanthus, Curly hair, Dysphagia, Sparse eyebrow, Absent thumb, Down...	ORPHA:500150
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Depression, Abnormal circulating biopterin concentration, Abnormal...	OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Clinodactyly of the ...	OMIM:618162
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Inguinal hernia, Single transverse palmar...	ORPHA:254528
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Ulnar deviation of thumb, ...	OMIM:142900
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom...	OMIM:260920
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo...	OMIM:602196
Postinfectious Vasculitis	Abnormality of humoral immunity, Elevated haptoglobin level, Anorexia, Retinal vasculitis, Increa...	ORPHA:48435
Severe Congenital Nemaline Myopathy	Thin ribs, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Increased connective t...	ORPHA:171430
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Large for gestational age, Bell-shaped thorax,...	ORPHA:254519
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Chorioretinitis, Bone cyst, Increas...	OMIM:181000
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Charge Syndrome	Chorioretinal coloboma, Abnormal tibia morphology, Epicanthus, Dysphagia, Eyelid coloboma, Polyda...	ORPHA:138
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Attention defi...	OMIM:618195
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Abnormality of the urethra, Dystrophic toenail, Hypopigmented skin p...	ORPHA:2907
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Abnormality of the vertebral column, Sprengel anomaly, Abnormal rib mo...	OMIM:601076
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Gm2-Gangliosidosis, Ab Variant	Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle...	OMIM:272750
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Thoracic hypoplasia, Radial bowing, Micromelia, Pter...	OMIM:211350
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A...	ORPHA:2167
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Glucocor...	ORPHA:231580
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le...	ORPHA:231625
Hyperekplexia 1	Umbilical hernia, Myoclonus, Inguinal hernia, Hypertonia, Exaggerated startle response, Frequent ...	OMIM:149400
Pyoderma Gangrenosum	Atrophic scars, Rheumatoid arthritis, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Encephalitis Lethargica	Mental deterioration, Stiff neck, Limb pain, Tremor, Increased circulating antibody level, Lethar...	ORPHA:83600
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Spasticity, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, T...	ORPHA:163746
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias	OMIM:250790
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Frontal upsweep of hair, Patellar subluxation, Finger joint hypermobil...	ORPHA:506358
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Spasticity, Decreased body weight, Abnormal pyramidal sign, Flexion contracture, Optic...	OMIM:614833
Fetal Akinesia Deformation Sequence 1	Thin ribs, Hip contracture, Talipes equinovarus, Short neck, Elbow ankylosis, Blepharophimosis, S...	OMIM:208150
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Decreased circulating renin level	OMIM:103900
Camptodactyly Syndrome, Guadalajara Type 3	Symblepharon, Osteopenia, Small hand, Broad femoral neck, Delayed skeletal maturation, Distal sho...	ORPHA:488434
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Tay-Sachs Disease	Cherry red spot of the macula, Hypertonia, Exaggerated startle response, Dementia, Psychomotor de...	OMIM:272800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Decreased calvaria...	OMIM:617925
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Epicanthu...	OMIM:134780
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
African Trypanosomiasis	Difficulty walking, Hepatosplenomegaly, Hemiparesis, Weight loss, Urinary incontinence, Delirium,...	ORPHA:3385
Weill-Marchesani Syndrome 2	Broad metacarpals, Broad phalanges of the hand, Delayed skeletal maturation, Umbilical hernia, El...	OMIM:608328
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Frontal upsweep of hair, Ataxia, Unsteady gait, Motor stereotypy, Hand tremor, ...	OMIM:614756
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Short ribs, Epicanthus, Abnormal r...	ORPHA:2519
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Chromosome 1P36 Deletion Syndrome, Distal	Abnormality of the hairline, Epicanthus, Polyphagia, Blepharophimosis, Optic disc pallor, Short f...	OMIM:607872
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Difficulty walking, Tremor, Elevated circulating creatine kinase concentration,...	OMIM:164310
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Hypoplastic iliac w...	OMIM:225500
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231632
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlord...	OMIM:277600
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Elsahy-Waters Syndrome	Downslanted palpebral fissures, Shortening of all phalanges of fingers, Cutaneous finger syndacty...	OMIM:211380
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Mesomelia, Postaxial pol...	OMIM:263520
Hyperekplexia 3	Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Alopecia totalis, Decreased circulating IgA level, Decreased cir...	OMIM:615577
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Finger syndactyly, Telecanthus, Upslanted palpebral fissure, Joint hypermo...	ORPHA:1974
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Downslanted palpebral fissure...	OMIM:117650
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, ...	ORPHA:3440
Hyperekplexia 2	Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Thick eyebrow, Short humerus, Irritability, Epiblepharon, Tapered finger, Hypertonia,...	OMIM:618367
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Optic atrophy, Broad femoral neck, Broad ribs, Sclerosis of skull base, Optic nerv...	OMIM:619727
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Elbow dislocation, Delayed skeletal maturation,...	ORPHA:2554
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver...	OMIM:610682
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling, Ataxia	OMIM:610651
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Retinopathy, Protei...	OMIM:219900
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla...	ORPHA:238468
Hyperekplexia-Epilepsy Syndrome	Hypertonia, Exaggerated startle response	ORPHA:163985
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Delayed skeletal...	ORPHA:93317
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Tongue fasciculations, Exaggerated startle response	OMIM:608800
Radio-Renal Syndrome	Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Micromelia, Short neck, Brac...	ORPHA:3015
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ...	OMIM:218600
Developmental And Epileptic Encephalopathy 8	Hypertonia, Exaggerated startle response	OMIM:300607
Retinoblastoma	Cellulitis, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retino...	ORPHA:790
Peters-Plus Syndrome	Facial hypertrichosis, Square pelvis bone, Limited elbow movement, Decreased body weight, Short n...	OMIM:261540
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Restrictive Dermopathy	Thin ribs, Increased anterioposterior diameter of thorax, Decreased skull ossification, Thoracic ...	ORPHA:1662
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Dextrocardia	Abnormality of the spleen, Congenital hip dislocation, Abnormality of the ureter, Abnormal rib mo...	ORPHA:1666
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Ramon Syndrome	Pigmentary retinopathy, Hypertrichosis, Decreased body weight, Juvenile rheumatoid arthritis, Opt...	OMIM:266270
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Glandular hypospadias, Penile hypospadias, Joint hypermobility, Neonatal death, Microp...	OMIM:300219
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Decreased circulating renin level, Hypokalemia, Elevated serum 11-deoxycortisol, Hype...	OMIM:202010
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Downslanted palpebral fissures, Horseshoe kidney, Splenomega...	OMIM:617088
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Glandular hypospadias, Penile hypospadias, Joint hypermobility, Penoscrotal hypospadia...	ORPHA:456328
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ...	ORPHA:1578
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Chorioretinal coloboma, Blepharophimo...	ORPHA:857
Vater/Vacterl Association	Abnormal vertebral morphology, Failure to thrive, Abnormal sternum morphology, Short thumb, Absen...	OMIM:192350
Retinitis Pigmentosa 74	Pigmentary retinopathy, Obesity, Polydactyly, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Craniofacial Microsomia 1	Block vertebrae, Multicystic kidney dysplasia, Cervical ribs, Genu valgum, Vesicoureteral reflux,...	OMIM:164210
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr...	ORPHA:183675
Unilateral Polymicrogyria	Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spasti...	ORPHA:268943
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Large for gestational age, Omphalocele, Coat hanger sign o...	ORPHA:254534
Fraser Syndrome	Toe syndactyly, Lacrimal duct aplasia, Finger syndactyly, Umbilical hernia, Cryptophthalmos, Malf...	ORPHA:2052
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA leve...	OMIM:300291
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody leve...	ORPHA:1951
Ulbright-Hodes Syndrome	Abnormal penis morphology, Thin ribs, Renal hypoplasia, Abnormal forearm bone morphology, Fibular...	ORPHA:3404
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Congenital diaphragmatic hernia, Single transverse palmar crease, Chordee...	OMIM:309801
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Pagod Syndrome	Optic atrophy, Multicystic kidney dysplasia, Abnormal clavicle morphology, Abnormality of the spl...	ORPHA:991
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ...	ORPHA:1112
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	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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