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

Download data as: TSV XLS

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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 (1637 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		Anemia, Panniculitis, B lymphocytopenia, Broad clavicles, Reticulocytopenia, Rhizomelic arm short...	ORPHA:508542
Bone Marrow Failure Syndrome 4		Rhizomelia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Immunodeficiency 27A	Anorexia, Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Hypopl...	OMIM:209950
Immunodeficiency 115 With Autoinflammation	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:620632
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hypertonia, Anemia, ...	OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hair quantit...	ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Hypertonia, Anemia, Hemophagocytosis, Pancytopenia, Tetrapleg...	OMIM:603553
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Anemia, Bone pain, Intention tremor, Ptosis, Erlenmeyer flask deformity of the femurs...	OMIM:610539
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Pectus carinatum, Clubbing, Pectus excavatum, Low posterior hairline, Flared ili...	OMIM:617303
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs, Abnormal hair morphology, Neonatal hypoproteinemia, Decrease...	OMIM:152800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Abnormal platelet function, Hypoproteinemia,...	ORPHA:167
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating I...	OMIM:241600
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy...	ORPHA:2169
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Decreased circulating antibod...	ORPHA:90362
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste...	ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Proximal tubulopathy, Kyphosis, Ataxia, Hypocholesterolemia, Tremor, Failure to thri...	OMIM:212065
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Hyperac...	ORPHA:247585
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Small nail, Short long bone,...	ORPHA:79324
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Clubbing of fingers, Decreased circulating antibody level, Clubbi...	OMIM:226300
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Elevated circulating C-reactive protein ...	OMIM:308240
Bone Marrow Failure Syndrome 3	Aplastic anemia, Nail dystrophy, Reduced bone mineral density, Small nail, Hyperactivity, Bone ma...	OMIM:617052
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia,...	ORPHA:811
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to...	OMIM:617294
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Truncal ataxia, Scoliosis, Tremor, Chorea, Elevated circulating ...	OMIM:208920
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Arthritis, ...	OMIM:604416
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha...	ORPHA:189
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Pectus carinatum, Joint stiffness, Bone marrow hypocellularity, Leukopenia, Hern...	ORPHA:505248
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Elevated circulating C-reactive protein concentration, Increased circulat...	OMIM:615934
Leishmaniasis	Anorexia, Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphol...	ORPHA:507
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Abnormality of the hand, Incoordination, Tremor, Episodic ataxia, El...	OMIM:160120
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Anemia, Scoliosis, Hypoproteinemia, Vesicoureteral reflux, Leukocytosis, Elevated...	OMIM:615895
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Pseudohypoparathyroidism Type 1B	Irritability, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Diaph...	ORPHA:94089
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Lateral femoral bowing, Retinopathy, Short humerus, Hydroxyprolinuria, Macular scar, In...	OMIM:239000
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Nephrotic syndrome, Thrombocytopenia, Proteinuria...	OMIM:615008
Celiac Disease, Susceptibility To, 1	Rickets, Steatorrhea, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Depression, Hypo...	OMIM:212750
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio...	ORPHA:79397
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Leukocytosis, Decreased ...	OMIM:619281
Immunodeficiency 32B	Anemia, Abnormal circulating IgG level, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocyt...	OMIM:226990
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Scoliosis, Arachnodactyly, Hepatosplenomegaly, Joint hypermobility, Hypoalb...	OMIM:619013
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Johanson-Blizzard Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Failure to thrive, Delayed skeletal ma...	ORPHA:2315
Alg6-Cdg	Scoliosis, Shortening of all distal phalanges of the fingers, Failure to thrive, Decreased LDL ch...	ORPHA:79320
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hyp...	OMIM:617021
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Camptodactyly, Failure to thrive, Neonatal death, Thrombocytopenia, Hypoalbuminemia, Shor...	OMIM:608104
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc...	OMIM:618048
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Abetalipoproteinemia	Kyphoscoliosis, Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Reticu...	ORPHA:14
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Failure to thrive, Severe B...	OMIM:603554
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Neuroleptic Malignant Syndrome	Urinary incontinence, Oculogyric crisis, Myoglobinuria, Chorea, Extrapyramidal muscular rigidity,...	ORPHA:94093
Pseudohypoparathyroidism, Type Ia	Short finger, Low urinary cyclic AMP response to PTH administration, Short metatarsal, Short meta...	OMIM:103580
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Abnormal platelet function, Short metacarpal, Irritability, Short 4...	ORPHA:79443
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi...	OMIM:101800
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Histiocytosis, Increased circulating antibody level, Polyarticular arth...	OMIM:235900
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega...	OMIM:619868
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Hyperpigmentation of the skin, Hyperkeratosis, Dystrophic toenail, Hypopigmentation ...	ORPHA:89838
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Pseudohypoparathyroidism, Type Ic	Low urinary cyclic AMP response to PTH administration, Short metatarsal, Hypocalcemia, Short meta...	OMIM:612462
Trichohepatoenteric Syndrome 1	Cognitive impairment, Renal cortical microcysts, Splenomegaly, Sparse hair, Fine hair, Hypospadia...	OMIM:222470
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossification, Thrombocy...	ORPHA:3319
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Lower limb hypertonia, Stage 5 chronic kidney disease, Optic atrophy, Irrit...	OMIM:619487
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Narrow chest, Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Downsla...	OMIM:235255
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia, Kyphosis, Failure to thrive, Delayed skeletal maturation, Hypoalbumi...	OMIM:608776
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Ménétrier Disease	Anorexia, Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia	ORPHA:2494
Reni Syndrome	Hypertriglyceridemia, Hyperpigmentation of the skin, Focal segmental glomerulosclerosis, Nephroti...	OMIM:617575
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Poems Syndrome	Leukonychia, Metaphyseal sclerosis, Increased circulating antibody level, Clubbing of fingers, Hy...	ORPHA:2905
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Tibial bowing, Femoral bowing, Irregular, rachitic-like metaphyses, Sp...	ORPHA:289157
Dengue Fever	Thrombocytopenia, Hypoproteinemia, Leukopenia, Lethargy	ORPHA:99828
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Reduced renal corticomed...	OMIM:603278
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:206100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Difficulty walking, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase ...	OMIM:606612
Pseudohypoparathyroidism Type 1C	Short metacarpal, Irritability, Short 4th metacarpal, Depression, Increased bone mineral density,...	ORPHA:79444
Autoimmune Hypoparathyroidism	Irritability, Hypocalcemic seizures, Depression, Hypocalcemia, Confusion, Increased bone mineral ...	ORPHA:36913
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ...	OMIM:614034
Maternal Uniparental Disomy Of Chromosome 4	Spastic gait, Optic atrophy, Chaddock reflex, Depression, Neurogenic bladder, Decreased body weig...	ORPHA:96180
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Nail dystrophy, Hyperkeratosis, Mixed hypo- and hyperpigmentation of the s...	ORPHA:79399
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Steppage gait, Spastic dysarthria, Ataxia, Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Ataxia	OMIM:613839
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp...	ORPHA:3268
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Narrow chest, Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Downsla...	ORPHA:1655
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of connective tissue, Scoliosis, Poor gross motor coordination, Elevated circulating ...	ORPHA:370968
Macrophage Activation Syndrome	Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnorm...	ORPHA:158061
Galloway-Mowat Syndrome 6	Clinodactyly of the 5th finger, Decreased body weight, Focal segmental glomerulosclerosis, Nephro...	OMIM:618347
Congenital Disorder Of Glycosylation, Type Ij	Hypertonia, Clinodactyly of the 5th finger, Single transverse palmar crease, Tremor, Hypoproteine...	OMIM:608093
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Hypertriglyceridemia, Increased circulating interleu...	ORPHA:540
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Normochromic anemia, Abnormality of the upper limb, Macrocyti...	ORPHA:124
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia	OMIM:207731
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia, Broad-based gait	OMIM:618805
Diamond-Blackfan Anemia 1	Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacral vertebrae, C...	OMIM:105650
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Clubbing of fingers, Increased circu...	OMIM:618534
Brucellosis	Chorea, Granuloma, Leukopenia, Splenomegaly, Anorexia, Depression, Increased circulating IgG leve...	ORPHA:1304
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Avascular necrosis, Increased mean corpuscular ...	ORPHA:232
Multiple Myeloma	Osteopenia, Acute kidney injury, Anemia, Vertebral compression fracture, Increased circulating Ig...	ORPHA:29073
Pantothenate Kinase-Associated Neurodegeneration	Impulsivity, Limb dystonia, Rigidity, Acanthocytosis, Tip-toe gait, Limb pain, Optic atrophy, Dep...	ORPHA:157850
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Hypophosphatemia, Osteolysis...	ORPHA:93160
Hemorrhagic Fever-Renal Syndrome	Decreased glomerular filtration rate, Decreased urine output, Oliguria, Elevated circulating crea...	ORPHA:340
Hypophosphatemic Rickets, X-Linked Dominant	Tibial bowing, Femoral bowing, Hypophosphatemia, Enamel hypomineralization, Metaphyseal irregular...	OMIM:307800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Subacute Inflammatory Demyelinating Polyneuropathy	Steppage gait, Difficulty walking, Increased circulating IgG level, Tremor, Leukocytosis, Gait di...	ORPHA:206594
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Diamond-Blackfan Anemia 7	Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Scoliosis,...	OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Methylmalonic acidemia, Bell-shaped thorax, Normochromic anemia, Hyperhomocys...	OMIM:614857
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Nail dystrophy, Abnormal immunoglobulin level, Increased circulating IgG level, Incre...	ORPHA:98813
Aceruloplasminemia	Chorea, Gait ataxia, Cognitive impairment, Aceruloplasminemia, Rigidity, Ataxia, Decreased circul...	ORPHA:48818
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Increased mean corpuscular volume, Highly arched eyebrow, Scoliosis,...	ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Premature graying of hair, Nail dystrophy, Anemia, Ridged nail, Increased mean c...	OMIM:127550
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Proteinuria...	OMIM:256300
Vitamin D-Dependent Rickets, Type 2A	Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Hypophosphatemia, Metaphyse...	OMIM:277440
Wolcott-Rallison Syndrome	Difficulty walking, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body wei...	ORPHA:1667
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Homocystinuria, M...	OMIM:277410
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Delayed skeletal maturation, Ataxia, Sparse hair, Neonatal hyperbilirubinemia, Re...	ORPHA:3363
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persis...	OMIM:612561
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop...	ORPHA:2070
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Agitation, Anemia, Panniculitis, Elevated circulating C-reactive protein concentra...	OMIM:615688
Beta-Ketothiolase Deficiency	Anorexia, Agitation, Hyperuricemia, Spasticity, Leukocytosis, Hyperammonemia, Ataxia, Extrapyrami...	ORPHA:134
Primary Membranoproliferative Glomerulonephritis	Decreased circulating complement C3 concentration, Acute kidney injury, Drusen, Nephrotic syndrom...	ORPHA:54370
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Anemia, Spastic hemiparesis, Hyperuricemia, Spasticity, Leukocytosis, Hyperammonemia, 3...	ORPHA:20
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Anorexia, Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Fail...	OMIM:611590
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Increased bone mineral density, Brittle hair, Slow-growing hair, Tiger tail ban...	OMIM:616943
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax...	ORPHA:309169
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Hyperlordosis, Scapular winging, Distichiasis, Failure to thrive, Sideroblas...	OMIM:600462
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Increa...	OMIM:127000
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Increased circulating IgE level, Megaloblastic anemia, Decreased circulatin...	OMIM:620603
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Hypophosphatemia, Metaphyse...	OMIM:241530
Squalene Synthase Deficiency	Irritability, Elevated urinary mevalonate lactone level, Hypospadias, Slender long bone, Optic ne...	OMIM:618156
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Bulging of the costochondral junction, Tibial bowing, Femoral bowing, ...	OMIM:264700
Congenital Analbuminemia	Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hy...	ORPHA:86816
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Hypocalcemia, Cone-shaped epiphyses of the phalanges of the hand...	OMIM:618618
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Hammertoe, Fasciculations, Tremor, Elevated circulating creatine kinase conce...	OMIM:615048
Primary Myelofibrosis	Anorexia, Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Poikilocytosis, Hepatospl...	ORPHA:824
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Nail dysplasia, Irregular hyperpigmentation, Anemia, Decreased circulating carnitine concentratio...	ORPHA:89842
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Cachexia, Splenomegaly, Abnormal blood ion concentration, Neutropenia, Hypocalcem...	ORPHA:37042
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Hypophosphatemia, Metaphyse...	OMIM:600081
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypermethio...	OMIM:613752
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Upslanted palpebral fissure, Pectus excavatum, Low posterior hairline, Joi...	OMIM:213980
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Hypertonia, Clinodactyly of the 5th finger, Scoliosis, Heterochromia iridis, Cognitive impairment...	ORPHA:1390
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda...	ORPHA:337
Ring Chromosome 21 Syndrome	Scoliosis, Decreased circulating antibody level, Spasticity, Multiple cafe-au-lait spots, Gait di...	ORPHA:1445
Glutathione Synthetase Deficiency	Spastic tetraparesis, Increased level of L-pyroglutamic acid in urine, Intention tremor, Ataxia, ...	OMIM:266130
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hyperproteinemia, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158048
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Aarskog-Scott Syndrome	Pectus excavatum, Cognitive impairment, Umbilical hernia, Joint hypermobility, Broad palm, Inguin...	ORPHA:915
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Nephropathy, Myoclonus, Focal segmental glomerulosclerosis, Gait ataxia, Nep...	OMIM:254900
Nephronophthisis	Abnormality of retinal pigmentation, Anemia, Renal insufficiency	ORPHA:655
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome...	ORPHA:3318
Immunodeficiency 92	Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce...	OMIM:619652
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Proximal muscle weakness in upper limbs, Difficulty walking, E...	ORPHA:99845
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Scoliosis, Failure to thrive, Downslanted palpebral fis...	OMIM:610883
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul...	OMIM:212050
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Babinski sign, Hammertoe, Scoliosis, Spasticity, Waddling gait, Pigmentary retinopathy	OMIM:619090
Multiple Mitochondrial Dysfunctions Syndrome 5	Spasticity, Elevated circulating creatine kinase concentration, Pigmentary retinopathy	OMIM:617613
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Elevated circulating creatine kinase concentra...	ORPHA:64753
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Dubowitz Syndrome	Aplastic anemia, Hyperactivity, Delayed skeletal maturation, Syndactyly, Hypocholesterolemia, Sac...	OMIM:223370
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Short metacarpal, Obesity, B...	OMIM:603233
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Kbg Syndrome	Finger clinodactyly, Telecanthus, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, ...	ORPHA:2332
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:185000
Myopathy With Extrapyramidal Signs	Hypervalinemia, Hyperactivity, Chorea, Ataxia, Splenomegaly, Clumsiness, Joint hypermobility, Ext...	OMIM:615673
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Nail dystrophy, Palmoplantar keratoderma, Anemia, Onychogryposis, Hyperpigmentation of ...	ORPHA:79396
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration	OMIM:154276
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anorex...	ORPHA:330015
Kniest Dysplasia	Bilateral ptosis, Enlarged metaphyses, Short long bone, Lattice retinal degeneration, Dumbbell-sh...	ORPHA:485
Syndromic Diarrhea	Trichorrhexis nodosa, Abnormality of iron homeostasis, Panhypogammaglobulinemia, Brittle hair, Hy...	ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Tip-toe gait, Difficulty walking, Exercise-induced myoglobinuria, Scoliosis, Hyperlordosis, Waddl...	OMIM:607155
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir...	ORPHA:169154
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, I...	ORPHA:2298
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Short palm, Delayed skeletal maturati...	OMIM:241410
Immunodeficiency 96	Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-...	OMIM:619774
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly...	ORPHA:443811
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, La...	ORPHA:94090
Sanjad-Sakati Syndrome	Hypoplasia of penis, Hypocalcemia, Abnormal dental enamel morphology, Patchy osteosclerosis, Dela...	ORPHA:2323
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Congenital Enterovirus Infection	Irritability, Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, T...	ORPHA:292
Alg1-Cdg	Scoliosis, Limitation of joint mobility, Kyphosis, Nephrotic syndrome, Hypoalbuminemia, Renal ins...	ORPHA:79327
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Anemia, Retinal calcification, Delayed cranial s...	ORPHA:93325
Linear Verrucous Nevus Syndrome	Aplasia/Hypoplasia of the fovea, Reduced bone mineral density, Genu recurvatum, Scoliosis, Short ...	ORPHA:2611
Avian Influenza	Acute kidney injury, Elevated circulating C-reactive protein concentration, Elevated circulating ...	ORPHA:454836
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased circulating complement C3 concentration, Autoimmune hemolytic anemia, Absent isohemaggl...	OMIM:615559
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Clubbing of fingers, Increased circulating IgG level, Increased circulating IgE level, Increased ...	OMIM:618982
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Cognitive impairment, Leukopenia, Dysphagia, Limb pain, An...	ORPHA:297
Liver Disease, Severe Congenital	Nail dystrophy, Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopenia, Splenomegaly, Umbilic...	OMIM:619991
Bacterial Toxic-Shock Syndrome	Fasciitis, Renal insufficiency, Hypocalcemia, Arthritis, Confusion, Abnormality of the upper limb...	ORPHA:36234
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Wilson Disease	Parkinsonism with favorable response to dopaminergic medication, Limb dystonia, Rigidity, Splenom...	OMIM:277900
Hepatoportal Sclerosis	Anemia, Hyperbilirubinemia, Cognitive impairment, Thrombocytopenia, Leukopenia, Splenomegaly, Hyp...	ORPHA:64743
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Obesity, Hypoalbuminemia	ORPHA:88643
Oculocerebrorenal Syndrome Of Lowe	Upslanted palpebral fissure, Kyphosis, Joint stiffness, Attention deficit hyperactivity disorder,...	ORPHA:534
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Liberfarb Syndrome	Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,...	OMIM:618889
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:601859
Autosomal Dominant Hypocalcemia	Irregular hyperpigmentation, Optic atrophy, Reduced bone mineral density, Writer's cramp, Cortica...	ORPHA:428
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Frontotemporal dementia, Paget disease of bone, Scapular winging, Elevated circulating creatine k...	OMIM:167320
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Combined Oxidative Phosphorylation Deficiency 55	Bilateral ptosis, Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Single transv...	OMIM:619743
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Retinal dystrophy, Single transverse palmar crease, Elevated urine trihydroxycholest...	OMIM:266510
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Ectopic kidney, Hyperactivity, Hypoplastic iliac wing...	OMIM:235510
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,...	OMIM:601198
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Craniosynostosis, Increased circulating IgE level, Clubbing, Scoliosis, Arthropathy, Thoracolumba...	OMIM:618523
Immunodeficiency 23	Cortical myoclonus, Increased circulating IgG level, Increased circulating IgE level, Scoliosis, ...	OMIM:615816
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Clubbing of fingers, Increased circulating...	OMIM:615767
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Abnormality of th...	ORPHA:247353
Marburg Hemorrhagic Fever	Increased circulating antibody level, Reticulocytosis, Hyperammonemia, Leukopenia, Lymphopenia, E...	ORPHA:99826
Cohen Syndrome	Abnormal hip bone morphology, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Joint hyper...	ORPHA:193
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology...	ORPHA:2522
Dominant Beta-Thalassemia	Irritability, Genu valgum, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Hyperp...	ORPHA:231226
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Bilateral ptosis, Reduced bone mineral density, Generalized aminoaciduria, Hypotriglyceridemia, O...	ORPHA:404454
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Butterfly vertebrae, Aggressive behavior, Pectus carinatum, 2-3 toe syndactyly, Th...	ORPHA:313892
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Rigidity, Hyperp...	OMIM:145600
Alpha-Methylacyl-Coa Racemase Deficiency	Increased circulating very long-chain fatty acid concentration, Depression, Spasticity, Tremor, I...	OMIM:614307
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Cohen Syndrome	Optic atrophy, Childhood-onset truncal obesity, Genu valgum, Cubitus valgus, Short metatarsal, Bo...	OMIM:216550
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:603909
Koolen-De Vries Syndrome	Spondylolisthesis, Hyperactivity, Prominent fingertip pads, Pectus excavatum, Kyphosis, Impulsivi...	OMIM:610443
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hypocalcemic seizures, Hypocalcemia, Chvostek sign, Nephrocalcinosis, Hyperphosphat...	OMIM:146200
Huntington Disease-Like 1	Abnormal posturing, Bradykinesia, Abnormal shoulder morphology, Memory impairment, Depression, Ch...	ORPHA:157941
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Hypomagnesemia 3, Renal	Polydipsia, Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creat...	OMIM:248250
Al Amyloidosis	Anemia, Increased circulating antibody level, Increased circulating NT-proBNP concentration, Howe...	ORPHA:85443
Blue Diaper Syndrome	Blue urine, Increased body weight, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Increased circulating antibody level, Delayed skeletal m...	ORPHA:77259
Arthrogryposis, Distal, Type 5	Hypertonia, Blepharophimosis, Scoliosis, Absent phalangeal crease, Recurrent patellar dislocation...	OMIM:108145
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Proteinuria...	OMIM:618349
Congenital Toxoplasmosis	Anemia, Cognitive impairment, Abnormality of retinal pigmentation, Thrombocytopenia, Failure to t...	ORPHA:858
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, ...	OMIM:614131
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Polyarticular...	OMIM:617388
Ataxia-Tapetoretinal Degeneration Syndrome	Gait disturbance, Cognitive impairment, Ataxia, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Inability to walk, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, ...	OMIM:613156
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Hypophosphatemia, Pathologic fracture, Osteolysis, Increased circulati...	ORPHA:249
Dystonia 31	Abnormal posturing, Difficulty walking, Writer's cramp, Leg dystonia, Depression, Craniofacial dy...	OMIM:619565
Oculopharyngodistal Myopathy 3	Tremor, Elevated circulating creatine kinase concentration, Ptosis, Ataxia, Dysphagia, Pigmentary...	OMIM:619473
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased red blood cell count, Elevated plasma cell coun...	ORPHA:90041
Hypophosphatasia	Abnormal metaphysis morphology, Irritability, Anemia, Craniosynostosis, Narrow chest, Bowing of t...	ORPHA:436
Galloway-Mowat Syndrome 1	Small nail, Hypopigmentation of the skin, Ataxia, Optic atrophy, Camptodactyly, Focal segmental g...	OMIM:251300
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Infantile Sialic Acid Storage Disease	Osteopenia, Vacuolated lymphocytes, Hypopigmentation of the skin, Nephrotic syndrome, Failure to ...	OMIM:269920
Ataxia-Oculomotor Apraxia 4	Oculomotor apraxia, Tetraplegia, Cognitive impairment, Obesity, Dystonia, Ataxia, Elevated circul...	OMIM:616267
Vici Syndrome	Hypopigmentation of the skin, T lymphocytopenia, Leukopenia, Dysphagia, Lymphopenia, Hypopigmenta...	OMIM:242840
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion...	OMIM:256040
Cofs Syndrome	Optic atrophy, Hypertonia, Prominent metopic ridge, Joint stiffness, Camptodactyly of finger, Abn...	ORPHA:1466
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Spasticity, Decreased circulating antibody l...	ORPHA:100
Metatropic Dysplasia	Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Fl...	OMIM:156530
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Increased intramuscular fat, Inability to walk, Fascicul...	ORPHA:276435
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia	OMIM:614492
Beta-Thalassemia Major	Anisopoikilocytosis, Irritability, Genu valgum, Hypochromic microcytic anemia, Abnormality of iro...	ORPHA:231214
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Inability to walk, Thick hair, Depression, Truncal ataxia, Dysdi...	OMIM:617675
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp...	OMIM:246700
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly,...	OMIM:612126
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr...	ORPHA:449400
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest...	OMIM:615558
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:243150
Spinocerebellar Ataxia, Autosomal Recessive 29	Inability to walk, Lower limb spasticity, Ataxia, Generalized dystonia, Retinal pigment epithelia...	OMIM:619389
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod...	OMIM:617514
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
Autoerythrocyte Sensitization Syndrome	Obsessive-compulsive trait, Hematuria, Impaired platelet adhesion, Depression, Emotional lability...	ORPHA:324636
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Decreased circulating total IgG, Anemia, Elevated circulating C-reactive protein concen...	OMIM:619381
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v...	OMIM:616860
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon...	OMIM:620282
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Fused cervical vertebrae, Elevated circulating C-reactive protein concen...	OMIM:612852
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l...	OMIM:145250
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Irritability, Hypertonia, Babinski sign, Dystonia, Dysphagia, Epicanthus, Rod-cone...	OMIM:264470
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Nephrotic syndrome, Microscop...	OMIM:619155
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG2 level, Failure to th...	OMIM:102700
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal d...	OMIM:275400
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,...	OMIM:616959
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Unilateral renal agenesis, Short thorax, Vertebral segmentation defect, Short long...	OMIM:618845
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, C...	OMIM:615234
Acute Bilirubin Encephalopathy	Hypertonia, Conjunctival icterus, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hyp...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypertonia, Conjunctival icterus, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hyp...	ORPHA:529808
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Proximal tubulopathy, ...	ORPHA:231222
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Impulsivity, Cognitive impairment, Retinopathy, Limb dystonia, Rigidity, Dysphagia, Clums...	ORPHA:216873
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Difficulty walking, Progressive cerebellar ataxia, Thick hair, Lipoma, Depression, Dysdiadochokin...	ORPHA:502423
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Hypocalcemia, Confusion, Elevated circulating creatine kinase ...	ORPHA:466650
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Ataxia, Cognitive impairment	ORPHA:2246
Cockayne Syndrome Type 1	Optic atrophy, Scarring, Hypermelanotic macule, Difficulty walking, Anemia, Foot joint contractur...	ORPHA:90321
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Palpebral edema, Clinodactyly of the 2nd finger, Optic nerve hypoplasia, Hyperlordosis, Dermatoch...	ORPHA:221139
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Congenital Disorder Of Glycosylation, Type Ie	Nail dysplasia, Optic atrophy, Ankle flexion contracture, Upper limb undergrowth, Tremor, Elevate...	OMIM:608799
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Abnormal form of the vertebral bodies, Hyperactivity, Joint stiffne...	ORPHA:581
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Inguinal hernia, Pancytopenia, Hypocal...	OMIM:613658
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Telecanthus, Single transverse palmar crease,...	OMIM:244450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Chronic hemolytic anemia, Tetraplegia, Myoclonus, Leukocytosis, Pectus excavatum, R...	OMIM:618278
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormal dental enamel morphology, S...	ORPHA:96169
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer...	OMIM:619802
Autosomal Recessive Spastic Paraplegia Type 15	Babinski sign, Frontotemporal dementia, Yellow/white lesions of the retina, Lower limb spasticity...	ORPHA:100996
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Anemia, Memory impairment, Arthritis, Confusion, Clubbing, Myelofibrosis, Myelopr...	ORPHA:3260
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Memory impairment, Scoliosis, Tremor, Elevated circulating creatine kinase co...	OMIM:614018
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Cachexia, Pectus carinatum, Hyperlordosis, Abnormall...	ORPHA:800
Autism Spectrum Disorder Due To Auts2 Deficiency	Bilateral ptosis, Joint contracture of the 5th finger, Highly arched eyebrow, Hyperactivity, Cere...	ORPHA:352490
Phenylketonuria	Osteopenia, Lower limb spasticity, Depression, Hyperphenylalaninemia, Hypopigmentation of the ski...	ORPHA:716
Hypophosphatasia, Infantile	Short ribs, Elevated urine pyrophosphate, Short lower limbs, Nephrocalcinosis, Craniosynostosis, ...	OMIM:241500
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Pectus carinatum, ...	ORPHA:239
Calciphylaxis	Cellulitis, Hyperphosphatemia, Stage 5 chronic kidney disease, Ectopic ossification	ORPHA:280062
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Arachn...	OMIM:616730
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, Nephronophth...	ORPHA:474
Majeed Syndrome	Bone pain, Anemia of inadequate production, Failure to thrive, Delayed skeletal maturation, Hepat...	OMIM:609628
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Delayed skeletal maturation, Decreased circulating IgG level, Enamel hyp...	ORPHA:2643
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Spinocerebellar Ataxia 7	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ...	OMIM:164500
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl...	ORPHA:3409
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Bone pain, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypop...	ORPHA:89937
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Steatorrhea, Delayed skeletal maturation, Nephrocalcinosis, Neutrop...	OMIM:260400
Cystinosis	Rickets, Polydipsia, Hypokalemia, Nephropathy, Gait disturbance, Retinopathy, Failure to thrive, ...	ORPHA:213
Opsismodysplasia	Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Shallow orbits, Hypo...	OMIM:258480
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Bilateral ptosis, Gait imbalance, Scoliosis, Deficit in phonologic short-term memory, Loss of amb...	ORPHA:329336
Bardet-Biedl Syndrome 13	Polydactyly, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vesse...	OMIM:615990
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Babinski sign, Central retinal vessel vascular tortuosity, Progressive spastic paraparesis, Progr...	ORPHA:506353
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Mental deterioration, Retinopathy, Ataxia, Pigmentary retinopathy	OMIM:610951
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Scoliosis, Tremor, Spasticity,...	ORPHA:521406
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short palpebral fissure, Difficulty walking, Cervical C2/C3 vertebral fusion, Osseous finger synd...	ORPHA:370010
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	OMIM:242150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Clubbing, Thrombocytopenia, Splenom...	OMIM:620367
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Pancytopenia, Bone pain, Renal phosphate wasting...	ORPHA:562
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H...	ORPHA:88618
Schimke Immunoosseous Dysplasia	Hypermelanotic macule, Lymphopenia, Fine hair, Stage 5 chronic kidney disease, Neutropenia, Pancy...	OMIM:242900
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Reduced circulating transferrin concentration, Decreased ci...	ORPHA:90363
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Subperiosteal bone formation, Increased renal tubular phosphate reabsorption, Angioid...	OMIM:211900
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,...	ORPHA:89936
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ...	ORPHA:90650
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Ring Chromosome 14 Syndrome	Almond-shaped palpebral fissure, Downslanted palpebral fissures, Epicanthus, Short neck, Blepharo...	OMIM:616606
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Abnormal posturing, Generalized dystonia, Inability to walk, Spasticity, Gait distu...	ORPHA:216866
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Cystinosis, Nephropathic	Polydipsia, Generalized aminoaciduria, Hypopigmentation of the skin, Retinopathy, Delayed skeleta...	OMIM:219800
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Asymmetry of the t...	OMIM:250250
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Interstitial Lung And Liver Disease	Anemia, Clubbing, Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, Thr...	OMIM:615486
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal py...	OMIM:615924
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Spasticity, Pectus excavatum, Camptodactyly, Nephrotic syndrome, Arachnodac...	OMIM:617729
Ataxia-Telangiectasia	T lymphocytopenia, Ataxia, Lymphopenia, Myoclonus, Decreased circulating IgG2 level, Abnormal hai...	OMIM:208900
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased susceptibility to fractures, Increased circulating IgE level, Scoliosis, Cutaneous absc...	OMIM:619752
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Leukocytosis, Weight loss, Hypoalbuminemia	ORPHA:67
Robinow Syndrome, Autosomal Recessive 1	Nail dysplasia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Small n...	OMIM:268310
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, F...	ORPHA:277
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Bence Jones Proteinuria, Osteoporosis, Splenomegaly...	ORPHA:100024
Mevalonic Aciduria	Kyphoscoliosis, Fluctuating splenomegaly, Anemia, Progressive cerebellar ataxia, Elevated circula...	OMIM:610377
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Hyperconvex fingernails, Pectus carinatum, Short metacarpa...	ORPHA:192
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r...	OMIM:301082
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn...	OMIM:178110
Neutropenia, Chronic Familial	Clubbing, Neutropenia, Increased circulating antibody level, Clubbing of fingers	OMIM:162700
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro...	ORPHA:66637
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Hypotriglyceridemia, Retinal atrophy, Short long bone, Short metaca...	ORPHA:85167
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Sjögren-Larsson Syndrome	Macular degeneration, Scoliosis, Abnormal dental enamel morphology, Spasticity, Kyphosis, Joint s...	ORPHA:816
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Scoliosis, Elevated circulating creatine kinase concentration, Clonus, Failure to ...	OMIM:619055
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Calcinosis, Anemia, Narrow chest, Hypercalciuria, Failure to thrive, Hyperp...	OMIM:239200
Verheij Syndrome	Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Renal cyst, Short neck, Clinodactyly, Renal hyp...	OMIM:615583
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ...	OMIM:618213
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Increased circulatin...	ORPHA:157215
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia	ORPHA:2239
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Fibronectin Glomerulopathy	Nephrotic syndrome, Microscopic hematuria, Proteinuria, Hypoalbuminemia, Renal insufficiency	ORPHA:84090
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis, Posterior fusion of lumbosacral vertebrae	OMIM:192800
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Zika Virus Disease	Ankle swelling, Wrist swelling, Optic disc hypoplasia, Arthritis, Chorioretinal atrophy, Abnormal...	ORPHA:448237
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Kawasaki Disease	Abnormality of nail color, Irritability, Elevated circulating C-reactive protein concentration, A...	ORPHA:2331
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Ataxia, Dementia, Rod-cone dystrophy	OMIM:551500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Difficulty walking, Tongue fasciculations, Scoliosis, Tremor, Myoclonus, Elevated circulating cre...	OMIM:159950
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hyperactivity, Splenomegaly, Overlapping toe, Hypocholesterolemia, H...	OMIM:270400
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Increased circulating IgG level, Failure to thrive, Splenomegaly, De...	OMIM:618495
Xfe Progeroid Syndrome	Optic atrophy, Cachexia, Scoliosis, Corneal scarring, Failure to thrive, Enamel hypoplasia, Atten...	OMIM:610965
Hypermanganesemia With Dystonia 2	Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Hypermanganesemia, Tip-toe gait, ...	OMIM:617013
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Babinski sign, Truncal ataxia, Spasticity, Cognitive impairment, Ptosis, Dystonia,...	OMIM:252011
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Flared metaphysis, Metaphyseal cupping, Hypocalcemia, Hypophosphatemia, Bowing of the...	OMIM:619073
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Bilateral ptosis, Dislocated radial head, Ky...	OMIM:265000
Juvenile Paget Disease	Optic atrophy, Cranial hyperostosis, Abnormal clavicle morphology, Hyperuricemia, Pectus carinatu...	ORPHA:2801
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Polyuria, Polydipsia, Calvarial osteosclerosis, Nephrolithiasis, Metacarpal periostea...	OMIM:617994
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cystathioninuria,...	OMIM:277400
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Anemia, Clubbing of fingers, Broad phalanx of the toes, Cachexia, Subcu...	ORPHA:79076
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Optic atrophy, Macular dystrophy, Hypertonia, Hypopigmentation of hair...	ORPHA:33445
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar...	ORPHA:177910
Aicardi-Goutieres Syndrome 6	Irritability, Tremor, Rigidity, Dystonia, Thrombocytopenia, Splenomegaly, Loss of ambulation, Inc...	OMIM:615010
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Flexion contracture	ORPHA:367
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasi...	OMIM:274000
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Hypospadias, Pectus carinatum, Failure to thrive, Downslanted palpebral fissures,...	ORPHA:98791
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Tremor, Sideroblastic anemi...	OMIM:222300
Liver Failure, Infantile, Transient	Irritability, Dicarboxylic aciduria, Hyperbilirubinemia, Decreased circulating IgG level, 3-hydro...	OMIM:613070
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Griscelli Syndrome	Premature graying of hair, Abnormal circulating lipid concentration, Hypopigmented skin patches, ...	ORPHA:381
Lamb-Shaffer Syndrome	Optic atrophy, Abnormal temper tantrums, Fused cervical vertebrae, Hyperactivity, Scoliosis, Thor...	ORPHA:530983
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Short long bone, Broad femoral neck, Butterfly vertebrae, Rhizomelia, Hemolytic-u...	OMIM:611209
Chylomicron Retention Disease	Steatorrhea, Retinopathy, Failure to thrive, Hypocholesterolemia, Acanthocytosis	ORPHA:71
Hypophosphatemic Rickets, X-Linked Recessive	Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys...	OMIM:300554
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of bone mineral density, Abnormality of retinal ...	ORPHA:3156
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Leukocyto...	ORPHA:2902
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Palpebral edema, Cubitus valgus, Polycystic kidney dysplasia, Single trans...	OMIM:214110
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hyperpigmentation of the skin...	ORPHA:186
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Abnormal vertebral morphology, Pathologic ...	ORPHA:352540
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit...	ORPHA:276
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly,...	OMIM:251880
Cockayne Syndrome	Urinary incontinence, Cachexia, Retinal atrophy, Kyphosis, Cognitive impairment, Action tremor, A...	ORPHA:191
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Alop...	OMIM:304790
Pearson Syndrome	Steatorrhea, Reticulocytosis, Bone marrow hypocellularity, Ataxia, Splenomegaly, Hypophosphatemia...	ORPHA:699
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Urinary incontinence, Memory impairment, Depression, Chorea, Dysdiadochokinesis, At...	OMIM:213600
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Cafe-au-lait sp...	ORPHA:300298
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholest...	OMIM:607765
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Anemia, Abnormality of retinal pigmentation, Thrombocytopenia, Sp...	ORPHA:290
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Impaired platelet aggregation, Renal potassium wasting, Increased serum prostaglandin...	OMIM:241200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Anemia, Hyperlordosis, Limitation of joint mobility, Tremor, Gait disturbance, Nephro...	ORPHA:1192
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop...	OMIM:606367
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Doors Syndrome	Bilateral ptosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal finger morphology,...	ORPHA:79500
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin...	OMIM:615615
Hyperlysinemia, Type I	Argininuria, Anemia, Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Clumsiness, Short...	OMIM:238700
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytopenia, A...	ORPHA:83313
Beta-Thalassemia	Irritability, Reduced bone mineral density, Anemia, Abnormality of iron homeostasis, Thrombocytop...	ORPHA:848
Isolated Succinate-Coq Reductase Deficiency	Irritability, Babinski sign, Progressive psychomotor deterioration, Knee flexion contracture, Spa...	ORPHA:3208
Dent Disease 1	Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys...	OMIM:300009
Kbg Syndrome	Radial deviation of finger, Low posterior hairline, Ulnar deviation of the 2nd finger, Delayed sk...	OMIM:148050
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormal...	OMIM:601957
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Low posterior hairline,...	OMIM:618000
Chromosome Xq13 Duplication Syndrome	Limited elbow extension, Short palpebral fissure, Medial flaring of the eyebrow, Clinodactyly of ...	OMIM:301069
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Limited knee extension, Dysphagia, Myoclonu...	ORPHA:845
Simpson-Golabi-Behmel Syndrome	Nail dysplasia, Congenital diaphragmatic hernia, Ureteral duplication, Small nail, Hypoplasia of ...	ORPHA:373
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Highly arched eyebrow, Dysphagia, Lymphopenia, Delayed closure of the anter...	OMIM:618460
Polycythemia Vera	Acute leukemia, Myelofibrosis, Leukocytosis, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:729
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Delayed skeletal maturation, Decrease...	OMIM:616834
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan...	ORPHA:567548
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Inability to walk, Writer'...	OMIM:128100
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Optic nerve hypoplasia, Vesicoureteral reflux...	OMIM:609053
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Ataxia With Vitamin E Deficiency	Hypertonia, Mental deterioration, Dysdiadochokinesis, Scoliosis, Tremor, Gait disturbance, Hemipl...	ORPHA:96
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr...	OMIM:619924
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Vitritis, Increased circulati...	ORPHA:1163
Naegeli-Franceschetti-Jadassohn Syndrome	Nail dystrophy, Decreased number of sweat glands, Palmoplantar hyperkeratosis, Dystrophic toenail...	ORPHA:69087
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Homocarnosinosis	Spastic paraplegia, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnos...	OMIM:236130
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Abnormal c...	ORPHA:93351
Immunodeficiency 10	Increased circulating IgG3 level, Autoimmune hemolytic anemia, Nail dysplasia, Amelogenesis imper...	OMIM:612783
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Ataxi...	ORPHA:79282
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Decerebrate rigidity, Hyperlordosis, Kyphosis, Cognitive i...	ORPHA:354
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Generalized lipodystrophy, Progressive psychomotor deterioration, Hyperacti...	ORPHA:363400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Anemia, Increased circulating antibody level, Failure to thrive, Thrombocytopeni...	OMIM:615285
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Argininuria, Increase...	ORPHA:470
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Hypercalciu...	OMIM:156400
Transcobalamin Ii Deficiency	Irritability, Methylmalonic aciduria, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopen...	OMIM:275350
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Poor fine motor coordination, Pigmentary retinopathy, Optic disc ...	ORPHA:79264
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Hyperactivity, Rigidity, Ataxia, Dysphagia, Motor tics, Acanthocytosis, Opt...	OMIM:234200
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Multiple Pterygium Syndrome, Lethal Type	Short finger, Akinesia, Multiple pterygia, Joint dislocation, Thin ribs, Flexion contracture, Ver...	OMIM:253290
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Spinal canal stenosis, Joint...	OMIM:618282
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Increased circulating antibody level, Panniculitis, Arthritis, Fail...	OMIM:617591
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis, Delayed skeletal maturation, Obesity, Abnormality of retinal pigmentatio...	ORPHA:3085
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Hammertoe, Tremor, Elevated circulating creatine kinase concentration, Gait ataxia...	OMIM:618387
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Small nail, Persistent open anterior fontanelle, Renal cortical microcysts, Sple...	OMIM:614866
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Hypopigmented skin patches, Abnormal rib morphology, Irregular hyperpigmentation, Melanocytic nevus	ORPHA:2435
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Delayed skeletal maturation, Renal cortical microcysts, Dysphagia, Hypospadia...	OMIM:214100
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, ...	OMIM:601678
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Spasticity, Cerebral palsy, Clubbing of fingers	OMIM:618973
Castleman Disease	Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei...	ORPHA:160
Thrombocytopenia-Absent Radius Syndrome	Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Finger ...	ORPHA:3320
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Vesicoureteral reflux, Br...	OMIM:244600
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Optic nerve ...	ORPHA:667
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Decreased circulating antibody level, ...	ORPHA:859
Igg4-Related Pachymeningitis	Elevated circulating C-reactive protein concentration, Confusion, Reduced circulating complement ...	ORPHA:449427
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Reduced bone mineral density, Joint dislocation, Joint stiffness, Decreased circulating IgG level...	OMIM:620210
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis...	OMIM:272460
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Scoliosis, Spasticity, Hyperalaninemia, Hyperglycinemia, Pigmentary retinopathy, Hip dislocation	OMIM:619059
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co...	OMIM:613011
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Lateral Meningocele Syndrome	Inguinal hernia, Telecanthus, Scoliosis, Wormian bones, Neurogenic bladder, Pectus excavatum, Kyp...	OMIM:130720
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Single transverse palmar crease, B...	OMIM:614105
Sialidosis Type 2	Inguinal hernia, Short thorax, Pectus carinatum, Tremor, Kyphosis, Osteoporosis, Ataxia, Flexion ...	ORPHA:87876
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Broad-based gait, Truncal ataxia, Recurrent hand flapping, Persistence of hemoglobin...	OMIM:617101
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Minimal chang...	OMIM:620565
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Spinal rigidity, Scoliosis, Hyperlordosis, Hirsutism, Elevated ...	OMIM:613327
Hereditary Methemoglobinemia	Hypertonia, Abnormality of the nail, Spasticity, Athetosis, Limb dystonia, Spastic tetraplegia, S...	ORPHA:621
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Leber Congenital Amaurosis 1	Eye poking, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreoni...	OMIM:204000
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Chorea, Rigidity, Ataxia, Dysphagia, Myoclonus, Clumsiness, Optic atrophy, Babinski sign, Blephar...	OMIM:617282
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Kearns-Sayre Syndrome	Delayed skeletal maturation, Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Ataxia,...	ORPHA:480
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Cutaneous abscess, Hemiplegia, ...	OMIM:243700
Multiple Pterygium Syndrome, X-Linked	Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Flexi...	OMIM:312150
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Irritability, Cervical C2/C3 vertebral fusion, Hyperactivity, Pectus ...	OMIM:617796
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop...	OMIM:618459
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs...	OMIM:607271
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Iris hypo...	ORPHA:2513
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hypokalemia, Hyperprostaglandi...	ORPHA:89938
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis, Osteoporosis, Failure to thrive, Pigmentary retinopathy	OMIM:618234
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Griscelli Syndrome Type 2	Premature graying of hair, Hypertonia, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, ...	ORPHA:79477
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Clinodactyly of the 5th finger, Sandal gap, Cognitive impair...	ORPHA:2515
Alstrom Syndrome	Polydactyly, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Renal ...	OMIM:203800
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Prominent protruding coccyx, Oral-pharyngeal dysphagia, Lipoma, Tremor, Long eyelashes, Abnormal ...	ORPHA:480907
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Failure to thrive, Agamma...	OMIM:613501
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Kyphoscoliosis, Wrist flexion contracture, Spastic paraplegia, Ataxia, Bruxism, Bab...	OMIM:300055
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Proximal tubulopathy, Renal cyst, Failure to thrive, Hypoalbuminemia	OMIM:602579
Rift Valley Fever	Anorexia, Anemia, Hematuria, Increased circulating IgG level, Decerebrate rigidity, Retinal hemor...	ORPHA:319251
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia, H...	OMIM:214700
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Thoracic kyphosis, Hirsutism, Tremor, Gait ...	OMIM:610185
Gaucher Disease	Decreased HDL cholesterol concentration, Increased circulating antibody level, Oculomotor apraxia...	ORPHA:355
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Hypospadias, Narrow chest, Hypoplasia of penis, Abnor...	ORPHA:1703
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Increased circulating IgE level, Scoliosis, Kyphosis, Brachydactyly, Hip ...	ORPHA:1858
Juvenile Polyposis Syndrome	Anemia, Clubbing of fingers, Hypoproteinemia, Rectocele, Failure to thrive, Downslanted palpebral...	ORPHA:2929
Adult-Onset Nemaline Myopathy	Bradykinesia, Difficulty walking, Neuromuscular dysphagia, Paraproteinemia, Flexion contracture, ...	ORPHA:171442
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Spasticity, Failure to thrive, Hyperammonemia, Hydronephrosis, Conjugated hyperbilirubinemia, Dec...	OMIM:617093
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Spasticity, Tremor, Intrinsic hand muscle atrophy, Dystonia, Dysphagia, Menta...	OMIM:304700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG level, Abnormally l...	OMIM:618987
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Ataxia, Spa...	OMIM:139210
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Failure to thrive, Hypernatremia, Sparse hair, Palmoplantar kera...	OMIM:615508
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Pectus excavatum, Kyphosis, Gait ataxia, Aplasia of the 1st metacarpal, Par...	ORPHA:476126
Say-Barber-Miller Syndrome	Highly arched eyebrow, Thoracic kyphoscoliosis, Lingual dystonia, Transient hypogammaglobulinemia...	ORPHA:3132
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Beaking of vertebral bodies, Coarse hair, Dense calvaria, Heparan sulfate excreti...	OMIM:252930
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia...	OMIM:300400
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Nail dysplasia, Nail dystrophy, Bone marrow hypocellularity, Ataxia, S...	OMIM:612199
Otopalatodigital Syndrome Type 2	Flared iliac wing, Fibular aplasia, Tarsal synostosis, Abnormal metacarpal morphology, Hypospadia...	ORPHA:90652
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Smith-Magenis Syndrome	Hypertriglyceridemia, Retinal detachment, Hyperactivity, Scoliosis, Increased body weight, Head-b...	OMIM:182290
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,...	OMIM:601457
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Single transverse palmar crease, Scoliosis, Hirsutism, Kyphosis, Synophrys, Decreased circulating...	OMIM:300861
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Decreased circulating antibody level, Tremor, Decreased serum creatinine, Failure...	OMIM:617744
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Atypical Rett Syndrome	Kyphosis, Gait ataxia, Bruxism, Pill-rolling tremor, Agitation, Tongue thrusting, Scoliosis, Trem...	ORPHA:3095
Wiedemann-Steiner Syndrome	Broad lateral eyebrow, Highly arched eyebrow, Hyperactivity, Generalized hypertrichosis, Low post...	OMIM:605130
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Clubbing, Failure to thrive, Hypoalbuminemia	OMIM:174900
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Hypospadias, Sandal gap, Hypocalcemia,...	OMIM:607143
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Hyperconvex fingernails, Kyphosis, ...	OMIM:194190
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Ataxia, Flattened epiphysis, Worm...	OMIM:300232
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, 3-Methylglutaconic aciduria, Chorioretinal hyperpigmentation, Spasticity, Hyperala...	OMIM:618329
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Narp Syndrome	Retinal arteriolar tortuosity, Irritability, Babinski sign, Dementia, Myoclonic spasms, Ataxia, P...	ORPHA:644
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Dystrophic fingernails, Abnormal hair morphology, Increased circulating IgE level, Sc...	ORPHA:2314
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Tongue fasciculations, Elbow flexion contracture, Shor...	ORPHA:1145
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Palpebral edema, Short long bone, Flat acetabular roof, Hypopigmentation of the ...	OMIM:252500
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Urinary incontinence, Broad-based gait, S...	OMIM:609033
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Spasticity, Sparse eyebrow, Neonatal death, Hypocholesterolemia, Micropenis	OMIM:618810
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Inguinal hernia, Hypoplasia of peni...	ORPHA:10
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Anemia, Spastic tetraparesis, Gait disturbance, Failure to thrive, Hyperphosphatur...	ORPHA:436271
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate...	OMIM:613090
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Abnormal vertebral morphology, Anemia, Elevated circulating C-rea...	ORPHA:324964
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Platyspondy...	ORPHA:79255
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Adult-Onset Distal Myopathy Due To Vcp Mutation	Difficulty walking, Urinary incontinence, Depression, Fasciculations, Tremor, Scapular winging, F...	ORPHA:329478
Saccharopinuria	Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Tremor, Hyperlysinemia, Gait ataxia, ...	ORPHA:3124
Autoimmune Hepatitis	Increased circulating antibody level, Depression, Increased circulating IgG level, Arthritis, Inc...	ORPHA:2137
Mucopolysaccharidosis, Type Ii	Inguinal hernia, Tracheobronchomalacia, Split hand, Kyphosis, Dermatan sulfate excretion in urine...	OMIM:309900
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco...	OMIM:613686
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Babinski sign, Broad-based gait, Depression, Emotional lability, Scapular winging, Myoclonus, Fre...	OMIM:607459
Smith-Kingsmore Syndrome	Large for gestational age, Short proximal phalanx of finger, Rhizomelia, Deep palmar crease, Curl...	OMIM:616638
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Anemia, 11 pairs of ribs, Accessory spleen, Blepharophimosis, De...	OMIM:620005
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re...	ORPHA:1652
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Anemia, Slender long bone, Hypocalcemia...	OMIM:244460
Leigh Syndrome	Optic atrophy, Emotional lability, Spasticity, Failure to thrive, Ptosis, Dystonia, Ataxia, Hyper...	OMIM:256000
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria,...	ORPHA:656
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Retinal...	OMIM:618969
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Refsum Disease	Nail dysplasia, Hammertoe, Short metacarpal, Retinopathy, Ptosis, Hemiplegia/hemiparesis, Abnorma...	ORPHA:773
Femoral-Facial Syndrome	Abnormal fibula morphology, Inguinal hernia, Long penis, Polycystic kidney dysplasia, Scoliosis, ...	ORPHA:1988
Fanconi-Bickel Syndrome	Rickets, Hypertriglyceridemia, Osteopenia, Generalized aminoaciduria, Renal tubular acidosis, Hyp...	ORPHA:2088
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence...	OMIM:607594
Optic Atrophy 11	Optic atrophy, Hyperkinetic movements, Hyperactivity, Optic nerve hypoplasia, Athetosis, Gait apr...	OMIM:617302
Eem Syndrome	Macular dystrophy, Finger syndactyly, Sparse scalp hair, Ectrodactyly, Absent eyebrow, Retinopath...	ORPHA:1897
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s...	OMIM:610017
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Clubbing of fingers, Pancytopenia, Decreased proportion of class-swi...	OMIM:614700
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Increased vertebral height, Pancytopenia, Slender long bone, Single tran...	OMIM:613385
Coccidioidomycosis	Panniculitis, Abnormal metacarpal morphology, Abnormal long bone morphology, Abnormality of the v...	ORPHA:228123
Aicardi Syndrome	Optic atrophy, Butterfly vertebrae, Hypertonia, Scoliosis, Sparse lateral eyebrow, Abnormality of...	ORPHA:50
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Immunodeficiency, Common Variable, 6	Enlarged kidney, Complete or near-complete absence of specific antibody response to tetanus vacci...	OMIM:613496
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Ureteral duplication, Ectopic kidney, Abnormal iliac wing morph...	ORPHA:3027
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp...	ORPHA:423
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Primary Sclerosing Cholangitis	Osteopenia, Palmar telangiectasia, Depression, Osteoporosis, Hepatosplenomegaly, Splenomegaly, We...	ORPHA:171
Autosomal Recessive Hypophosphatemic Rickets	Polyarticular arthritis, Tibial bowing, Abnormality of renal excretion, Craniosynostosis, Renal h...	ORPHA:289176
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Hypospadias, Horseshoe kidney, Depression, Pectus carinatum, Pect...	ORPHA:65286
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Agitation, Hypertonia, Scoliosis, Tremor, Spasticity, Kyphosis, Dystonia, Unsteady ...	OMIM:617435
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Chromosome 8Q22.1 Duplication Syndrome	Cervical C2/C3 vertebral fusion, Short metacarpal, Broad thumb, Joint stiffness, Interphalangeal ...	OMIM:151200
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve...	OMIM:250460
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Short metacarpal, Pectus e...	OMIM:150250
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Retinal atrophy, Kyphosis, Hypoplastic pelvis, Ataxia...	OMIM:216400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte...	OMIM:618469
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lymphocyte apoptosis...	OMIM:614470
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,...	OMIM:616963
Camurati-Engelmann Disease	Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Ataxia, C...	ORPHA:1328
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Duane Retraction Syndrome	Irregular hyperpigmentation, Ectopic kidney, Oculomotor apraxia, Abnormal form of the vertebral b...	ORPHA:233
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Hyperalanin...	ORPHA:254881
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Stippled calcification in carpal bones, Sparse hair, Patellar dislocation, Abnorm...	OMIM:302960
Werner Syndrome	Rocker bottom foot, Premature graying of hair, Lipoatrophy, Increased bone mineral density, Spars...	ORPHA:902
Atypical Werner Syndrome	Rocker bottom foot, Premature graying of hair, Hypertriglyceridemia, Reduced bone mineral density...	ORPHA:79474
Gorlin Syndrome	Abnormal vertebral morphology, Bifid ribs, Palmar pits, Telecanthus, Vertebral wedging, Scoliosis...	ORPHA:377
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hyperconvex fingernails, Pectus excavatum, Kyphosis, Arachnodactyly, Inguinal hernia, Scoliosis, ...	ORPHA:2215
Angiostrongyliasis	Irritability, Stiff neck, Increased circulating IgG level, Increased circulating IgA level, Incre...	ORPHA:74
Japanese Encephalitis	Increased circulating antibody level, Eyelid fasciculation, Cognitive impairment, Opisthotonus, M...	ORPHA:79139
Ramon Syndrome	Abnormal dental enamel morphology, Failure to thrive, Abnormality of retinal pigmentation, Genera...	ORPHA:3019
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia	OMIM:610798
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Glomerular sclerosis, Pancytopenia, Recurrent myoglobinuria, Right hemiplegia, Tremor, My...	OMIM:607426
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Abnormal hair morphology, Slow-gro...	ORPHA:3082
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Abnormal eryt...	ORPHA:2388
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Osteogenesis Imperfecta	Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f...	ORPHA:666
Raine Syndrome	Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Highly arched eyebrow,...	OMIM:259775
Greenberg Dysplasia	Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr...	OMIM:215140
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Conjunctivitis, D...	OMIM:612692
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Tremor, Hy...	OMIM:214500
Igg4-Related Kidney Disease	Enlarged kidney, Increased circulating IgG4 level, Elevated circulating creatinine concentration,...	ORPHA:449395
Prolidase Deficiency	Bilateral single transverse palmar creases, Reduced bone mineral density, Genu valgum, Abnormal h...	ORPHA:742
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Decreased circulating total IgM, Fused cervical vertebrae, Inguinal hernia, B lym...	ORPHA:83617
Jaberi-Elahi Syndrome	Pectus carinatum, Kyphosis, Gait ataxia, Joint stiffness, Sparse hair, Joint hypermobility, Fine ...	OMIM:617988
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Palmar pits, Vertebral wedging, Abnormal stern...	OMIM:109400
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Short palpebral fissure, Clinodactyly of the 5th finger, Telecanthus, Broad t...	OMIM:612582
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Phoar2-Enteropathy Syndrome	Hyperostosis, Knee pain, Clubbing, Hypoalbuminemia, Periostosis	OMIM:614441
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Agitation, Hypertonia, Hyperactivity, Myoclonus, Exaggerated startle response, Impu...	OMIM:620423
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu...	OMIM:300971
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Increased circulating antibody level, Normochromic anemia, Dec...	ORPHA:91500
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Sialidosis Type 1	Abnormal form of the vertebral bodies, Short thorax, Pectus carinatum, Scoliosis, Tremor, Kyphosi...	ORPHA:812
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Nail dystrophy, Abnormality of the wrist, Increased circulating IgE level, Atrophic sca...	ORPHA:89843
Radio-Tartaglia Syndrome	Small nail, Highly arched eyebrow, Impulsivity, Ataxia, Dysphagia, Aggressive behavior, Scoliosis...	OMIM:619312
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Hyperphenylalaninemia, Tremor, Rigidity,...	OMIM:261640
X-Linked Intellectual Disability, Cabezas Type	Sandal gap, Hypoplasia of penis, Hyperactivity, Cachexia, Kyphosis, Joint hypermobility, Aggressi...	ORPHA:85293
Neurofibromatosis Type 1	Abnormal hip bone morphology, Kyphosis, Joint stiffness, Ataxia, Chronic myelogenous leukemia, Ge...	ORPHA:636
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Scoliosis, Low posterior hairline, Ab...	OMIM:118100
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Cognitive impairment, De...	ORPHA:582
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoalbuminemia, Diffuse mesangial scler...	OMIM:615244
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh...	ORPHA:1354
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl...	OMIM:619707
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Hypertonia, Decreased proportion of CD3-...	ORPHA:760
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hyperactivity, Tongue thrusting, Scol...	ORPHA:98794
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Gl...	OMIM:247800
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Abnormality of the periungual region, Decreased circulating antibody level, Abnor...	ORPHA:293978
Netherton Syndrome	Brittle hair, Increased circulating IgE level, Sparse scalp hair, Failure to thrive, Decreased ci...	OMIM:256500
Schnitzler Syndrome	Anemia, Increased bone mineral density, Arthritis, Bone pain, Leukocytosis, Increased circulating...	ORPHA:37748
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Hypertriglyceridemia, Lipoatrophy, Atlantoaxial abnormality, Action tremor, Short...	ORPHA:3455
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N...	OMIM:617102
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Arthritis, Decreased circulating antibody level, Failure to thrive, Increased ...	ORPHA:397596
Crimean-Congo Hemorrhagic Fever	Anorexia, Agitation, Stiff neck, Hematuria, Pancytopenia, Emotional lability, Increased circulati...	ORPHA:99827
Shashi-Pena Syndrome	Deep palmar crease, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Limb hypertonia, ...	OMIM:617190
Congenital Bile Acid Synthesis Defect Type 4	Memory impairment, Depression, Tremor, Elevated circulating creatine kinase concentration, Pigmen...	ORPHA:79095
Classic Phenylketonuria	Hypertonia, Hypopigmentation of hair, Memory impairment, Depression, Paraplegia, Hyperphenylalani...	ORPHA:79254
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia	ORPHA:217390
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den...	ORPHA:2911
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Kyphosis, Hypoplastic pelvis, Ataxia, Splenomegaly, S...	OMIM:133540
Hurler Syndrome	Cerebral palsy, Retinopathy, Splenomegaly, Abnormal epiphysis morphology, Hernia, Abnormal clavic...	ORPHA:93473
Hypermanganesemia With Dystonia 1	Bradykinesia, Steppage gait, Increased total iron binding capacity, Abnormality of extrapyramidal...	OMIM:613280
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem...	OMIM:256050
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ...	OMIM:620430
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Truncal titubation, Scoliosis, Pigmentary retinopathy, C...	ORPHA:88628
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Hypocalcemia, Decreased circulating antibody level, Hyponatremia,...	OMIM:618183
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Anemia, Truncal ataxia, Failure to thrive, Hyperphosphaturia, Glycosuria, Ataxia, ...	OMIM:220110
Stiff-Person Syndrome	Anemia, Depression, Exaggerated startle response, Myoclonic spasms, Frequent falls, Rigidity, Opi...	OMIM:184850
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Polyuria, Proximal tubulopathy, Osteoporosis, Failure to thrive, Ptosis, Ataxia, Myoclon...	OMIM:560000
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Pectus excavatum, Kyphosis, Dysphagia, Aggressive behavior, Scoliosis, Hirsutism, Tre...	OMIM:617061
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Congenital bilateral ptosis, Clinodactyly of the 5th finger, Small for gestational age, Hyperacti...	ORPHA:73272
Mucopolysaccharidosis, Type Iiid	Hyperactivity, Joint stiffness, Hypoplastic vertebral bodies, Splenomegaly, Dysphagia, Thickened ...	OMIM:252940
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Monoclonal elevation of circu...	ORPHA:91139
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Acro-Renal-Ocular Syndrome	Sandal gap, Short humerus, Hypoplasia of the ulna, Crossed fused renal ectopia, Preaxial hand pol...	ORPHA:959
Renpenning Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Hypospadias, Cachexia, Pectus excavatu...	ORPHA:3242
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hypokalemia, Decreased glomerular fil...	OMIM:602522
Sneddon Syndrome	Atrophic scars, Tremor, Hemiplegia, Lymphopenia, Decreased circulating total IgM, Mental deterior...	OMIM:182410
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce...	OMIM:240500
Mucopolysaccharidosis, Type Iiib	Dense calvaria, Hyperactivity, Hirsutism, Synophrys, Joint stiffness, Ovoid thoracolumbar vertebr...	OMIM:252920
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Oliguria, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia...	ORPHA:31824
Cri-Du-Chat Syndrome	Premature graying of hair, Hyperactivity, Short metacarpal, Syndactyly, Aggressive behavior, Opti...	OMIM:123450
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggrega...	ORPHA:79329
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Joint hypermobility, Limit...	OMIM:177170
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Epicant...	OMIM:614069
Mucopolysaccharidosis, Type Iva	Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Joint hypermobili...	OMIM:253000
Choroidal Atrophy-Alopecia Syndrome	Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epithelium, Finger syndactyly, ...	ORPHA:1433
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Failure to ...	OMIM:269840
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Broad-based gait, Hyperactivity, Hypopigmentation of the skin, Short at...	ORPHA:411515
Fanconi-Bickel Syndrome	Rickets, Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouri...	OMIM:227810
Pelizaeus-Merzbacher Disease	Cognitive impairment, Spastic paraplegia, Head titubation, Ataxia, Dysphagia, Optic atrophy, Writ...	OMIM:312080
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Dysphagia, Aplasia/...	ORPHA:198
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Broad thumb, Short 5th ...	ORPHA:508498
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Kyphoscoliosis, Irritability, Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Br...	ORPHA:3077
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Fai...	ORPHA:79303
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon...	OMIM:108720
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Bone pain, Hypophosphatemia, Osteomal...	OMIM:193100
Tularemia	Anemia, Increased circulating antibody level, Confusion, Leukocytosis, Conjunctival hyperemia, Th...	ORPHA:3392
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Optic atrophy, Sandal gap, Scoliosis, Spasticity, Abnormality of reti...	ORPHA:2715
Pierson Syndrome	Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular system, Retinal hemorrhage,...	OMIM:609049
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased proporti...	OMIM:619510
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Osteoporosis	OMIM:620532
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Inability to walk, Hypopigmentation of hair, Chorea, Spasticity, Failure to thrive, Ataxia, Dysph...	ORPHA:70472
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Cone-shaped epiphyses of the phalanges of the hand, Small nail, Hyperactivity, De...	ORPHA:261323
Tangier Disease	Hypertriglyceridemia, Ectropion, Nail dystrophy, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hy...	ORPHA:31150
Spinocerebellar Ataxia 48	Irritability, Babinski sign, Urinary incontinence, Depression, Cachexia, Chorea, Tremor, Gait ata...	OMIM:618093
19P13.12 Microdeletion Syndrome	Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Deep palmar crease, Finger syndactyly, H...	ORPHA:254346
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a...	OMIM:613388
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Optic atrophy, Hypertonia, Babinski sign, Abnormality of extrapyramidal motor...	OMIM:617527
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o...	OMIM:135100
Mogs-Cdg	Optic atrophy, Short palpebral fissure, Decreased circulating antibody level, Hirsutism, Long eye...	ORPHA:79330
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Short metatarsal, Hypospadias, Hyperactivity, Short metacarpal, Short phalanx of finger...	OMIM:614613
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis, Abnormality of retinal pigmentation, Hemiplegia	ORPHA:2743
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Cognitive impairment, Abnormal epiphyseal ossification, Retinopathy, ...	ORPHA:580
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Sandal gap, Hyperactivity, B lymphocytopenia, ...	OMIM:251260
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Confusion, A...	ORPHA:71212
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Incontinentia Pigmenti	Irregular hyperpigmentation, Broad nail, Cognitive impairment, Umbilical hernia, Osteolysis, Abno...	ORPHA:464
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Difficulty walking, Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary ...	ORPHA:442835
Multiple Sulfatase Deficiency	Optic atrophy, Broad thumb, Joint stiffness, Mucopolysacchariduria, Abnormality of retinal pigmen...	ORPHA:585
Mucopolysaccharidosis, Type Iiia	Dense calvaria, Inguinal hernia, Hyperactivity, Scoliosis, Hirsutism, Synophrys, Joint stiffness,...	OMIM:252900
Holoprosencephaly-Craniosynostosis Syndrome	Short palpebral fissure, Clinodactyly of the 5th finger, Cognitive impairment, Delayed skeletal m...	ORPHA:2163
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Inguinal hernia, Epiphyseal stippling, Optic nerve hypoplasia, Scoliosis,...	OMIM:222765
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Kyphosis, Renal Fanconi syndrome, Pathologic fracture, Joint hypermobility, Stage...	OMIM:309000
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Babinski sign, Bradykinesia, Urinary incontinence, Resting tremor, Progressiv...	ORPHA:225147
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Subcortical dementia, Emotional lability, Chorea, Tr...	OMIM:606159
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Small nail, Hyperactivity, Prominent fingertip pads, Pect...	OMIM:609625
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Moebius Syndrome	Radial deviation of finger, Syndactyly, Dysphagia, Clumsiness, Aplasia/Hypoplasia involving the m...	OMIM:157900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Minimal change glomerulonephritis, Hyperlipidemia, Reduced circulating complemen...	ORPHA:567546
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Decreased circulating copper concentration, A...	OMIM:300972
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Hyperbilirubinemia, Myoglobinuria, Tremor, Reticulocytosis, Decreased hemoglob...	ORPHA:713
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase...	OMIM:308230
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE level, ...	OMIM:602450
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Telecanthus, Synophrys, White forelock, Abno...	ORPHA:897
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Low posterior hairline, Thoracolumbar scoliosis, Ptosis, Flexion...	OMIM:616549
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Melas	Optic atrophy, Anemia, Memory impairment, Depression, Proximal tubulopathy, Myoclonus, Short atte...	ORPHA:550
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Postaxial polydactyly, Cone/cone-rod dystrophy, Attenuat...	OMIM:614500
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Ectropion, Anemia, Hypopigmentation of hair, Inguinal hernia, Abnormal...	ORPHA:2719
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Gait apraxia, Gait ataxia, Cognitive impairment, Ataxia, Dysphagia, Aggressive be...	OMIM:615157
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote...	OMIM:617099
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr...	ORPHA:1826
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia, Decreased body mass index, Scoliosis, Hemivertebrae, Tremor, Com...	ORPHA:370079
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac...	ORPHA:2319
Barth Syndrome	3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Gait disturbance, Failure to thrive, ...	OMIM:302060
Cenani-Lenz Syndrome	Ectropion, Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of th...	ORPHA:3258
Alveolar Echinococcosis	Liver abscess, Anemia, Increased circulating antibody level, Abnormal vertebral morphology, Bone ...	ORPHA:284
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Optic atrophy, Abnormal rib morphology, Craniofacial hyperostosis	ORPHA:1513
Proteus Syndrome	Macrodactyly, Irregular hyperpigmentation, Enlarged kidney, Asymmetry of the thorax, Abnormal for...	ORPHA:744
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Increased hematocrit	ORPHA:284227
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Delayed skeleta...	OMIM:271510
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Fused cervical vertebrae, Gait imbalance, Renal insufficiency, Short cla...	OMIM:617159
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Irritability, Hyperactivity, 2-3 toe syndactyly, Scoliosis, Synophrys, Motor ster...	ORPHA:391307
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Der...	OMIM:253220
Fanconi Renotubular Syndrome 5	Genu valgum, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Hypophosphatemia,...	OMIM:618913
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Low posterior hairline, Cogni...	ORPHA:2990
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, Broad-based gait, B lymphocyt...	OMIM:619705
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Low posterior hairline, Spr...	OMIM:214300
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Kyphoscoliosis, Clinodactyly of the 5th finger, Hyperactivity, Single transverse palmar crease, C...	OMIM:620075
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary biopterin level, Irritability, Hyperkinetic movements, Limb hypertonia, Hyperph...	OMIM:233910
3M Syndrome	Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic ischia, Hypoplastic pel...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Femoral bowing, Flat acetabular roof, Short long bone, Pectus excav...	OMIM:608728
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Joint stiffness, Ataxia, Constricted iliac wing, Joint hypermobility, Co...	OMIM:253010
Lowry-Wood Syndrome	Abnormality of nail color, Irregular epiphyses, Dislocated radial head, Abnormal epiphysis morpho...	ORPHA:1824
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Iris hypopigmentation, Al...	ORPHA:79431
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Chorioretinal atrophy, Spastic paraplegia, Obesity, Ataxia,...	OMIM:245800
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Wrist flexion contracture, Unsteady gait, Cho...	OMIM:618733
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Hypertonia, Genu recurvatum, Elbow flexion contracture, Exaggerated startle respon...	OMIM:617301
Xq28 (MECP2) duplication	Inability to walk, Depression, Progressive spasticity, Gait ataxia, Functional abnormality of the...	DECIPHER:45
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Optic atrophy, Limb hypertonia, Abnormality of extrapyramidal motor function,...	ORPHA:521426
Distal Renal Tubular Acidosis	Polydipsia, Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium w...	ORPHA:18
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Increased circulating IgE level, Onycholysis, Eosinophilia, Palmopl...	OMIM:270300
Aredyld Syndrome	Lipoatrophy, Craniofacial hyperostosis, Cachexia, Scoliosis, Abnormal dental enamel morphology, A...	ORPHA:1133
Dermatosparaxis Ehlers-Danlos Syndrome	Joint stiffness, Joint hypermobility, Hernia, Coxa valga, Abnormality of subcutaneous fat tissue,...	ORPHA:1901
Diabetes And Deafness, Maternally Inherited	Ptosis, Retinal degeneration, Unsteady gait, Pigmentary retinopathy	OMIM:520000
Joubert Syndrome 28	Oculomotor apraxia, Highly arched eyebrow, Pigmentary retinopathy, Ataxia, Joint hypermobility, O...	OMIM:617121
Fanconi Renotubular Syndrome 1	Rickets, Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy...	OMIM:134600
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Alpha-Mannosidosis, Infantile Form	Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Joint stiffness, Spastic paraplegia, A...	ORPHA:309282
Leber Congenital Amaurosis 2	Eye poking, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Absent ...	OMIM:204100
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Kyphoscoliosis, Small nail, Joint stiffness, Clinodactyly, Aggressive behavior, Medial flaring of...	OMIM:620494
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Inguinal hernia, Scoliosis, Increased serum beta-hexos...	OMIM:252600
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Dysphagia, Myoclonus, Joint hypermobility, Broad-based ...	ORPHA:438213
Degcags Syndrome	Premature graying of hair, Abnormal spleen morphology, Hypopigmentation of the skin, Low posterio...	OMIM:619488
Rasmussen Subacute Encephalitis	Irritability, Hemidystonia, Inability to walk, Memory impairment, Emotional lability, Hyperactivi...	ORPHA:1929
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Inguinal hernia, Widow's peak, Pollakisuria, Pectus excavatum, Ca...	OMIM:227330
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalciuria, Generalized osteoporosis, Hyperphosphaturia, Nephrocalcinosis, Hyperc...	ORPHA:99879
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Camptodactyly, Ptosis, Downslanted palpebral fissures, Joint hyp...	OMIM:617333
Trisomy 13	Optic atrophy, Bilateral single transverse palmar creases, Narrow chest, Scoliosis, Abnormal eyel...	ORPHA:3378
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Hypertonia, Anemia, Abnormal leukocyte morphology, Spa...	ORPHA:3322
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac...	ORPHA:1436
Bardet-Biedl Syndrome 17	Polydactyly, Polyuria, Polydipsia, Bone spicule pigmentation of the retina, Mesoaxial polydactyly...	OMIM:615994
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Oromandibular dystonia, Depression, Emotional lability, Abnormality...	OMIM:614298
Grant Syndrome	Abnormal cortical bone morphology, Joint dislocation, Narrow chest, Wormian bones, Decreased skul...	ORPHA:2097
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Elevated circulating creatine kinase concentration, Failure to thrive, Hyperammone...	OMIM:609015
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Multiple prenatal fractures, Thoracic hypoplasia, Wormi...	OMIM:616897
Infantile Nephropathic Cystinosis	Rickets, Low-molecular-weight proteinuria, Polydipsia, Hypokalemia, Cognitive impairment, Failure...	ORPHA:411629
Cystic Echinococcosis	Increased circulating antibody level, Splenic cyst, Abnormality of the vertebral column, Bone cys...	ORPHA:400
Kearns-Sayre Syndrome	Renal tubular acidosis, Sideroblastic anemia, Ptosis, Ataxia, Dementia, Renal Fanconi syndrome, P...	OMIM:530000
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Small thenar eminence, Short humerus, Absent thumb, Syndactyly...	OMIM:607323
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Renal salt wasting, Frontal balding, Long penis, Hirsutism, Elevated urinary epinep...	ORPHA:90794
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Hyperlordosis, Short long bone, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu...	OMIM:618019
Bardet-Biedl Syndrome 9	Polydactyly, Polydipsia, Bone spicule pigmentation of the retina, Renal insufficiency, Postaxial ...	OMIM:615986
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs, Hypophosphatemia	OMIM:146350
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Alopecia of scalp, Emotional lability, Tremor, Impaired T cell function, Failure to...	OMIM:201100
Pmm2-Cdg	Kyphoscoliosis, Reduced thyroxin-binding globulin, Photoreceptor layer loss on macular OCT, Ataxi...	ORPHA:79318
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Pectus excavatum, Bone marrow hypocellularity, Leukopenia, Abnormal retinal morp...	ORPHA:2785
Trisomy 18	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Hypertonia, Abnormal...	ORPHA:3380
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Hemiplegia/hemiparesis, Abnormality of retinal pig...	ORPHA:1173
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Increased circulating IgE level, Long eyelashes	OMIM:616069
Prolidase Deficiency	Anemia, Increased circulating antibody level, Facial hirsutism, Low posterior hairline, Hyperimid...	OMIM:170100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Palpebral edema, Hyperactivity, Hypopigmentation of the skin, Cerebral palsy, Kyphosis, Cognitive...	OMIM:619475
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm...	ORPHA:1834
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo...	ORPHA:2484
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Increased circulating antibody level, Oculomotor apraxia, Chorea, Scoliosis, Tremor,...	OMIM:606002
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Acute kidney injury, Drusen, Hematuria, Centra...	ORPHA:329918
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Clinodactyly of the 5th finger, Hypopigm...	ORPHA:999
Achondrogenesis Type 1B	Narrow chest, Short thorax, Abnormal enchondral ossification, Micromelia, Femoral hernia, Abnorma...	ORPHA:93298
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Methylmalonic acidemia, Ane...	OMIM:251100
Chops Syndrome	Optic atrophy, Cervical C2/C3 vertebral fusion, Thick hair, Tracheomalacia, Vesicoureteral reflux...	OMIM:616368
Joubert Syndrome 3	Nephronophthisis, Retinal dystrophy, Oculomotor apraxia, Highly arched eyebrow, Ptosis, Ataxia, E...	OMIM:608629
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Anemia, Telecanthus, Hypoplasia of penis, Depressi...	ORPHA:847
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Optic nerve compress...	OMIM:612301
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis, Conjunctivitis	ORPHA:1467
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Vici Syndrome	Optic atrophy, Renal tubular acidosis, Hypopigmentation of the skin, Joint stiffness, Decreased c...	ORPHA:1493
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Biliary, Renal, Neurologic, And Skeletal Syndrome	Upslanted palpebral fissure, Broad thumb, Syndactyly, Splenomegaly, Dark urine, Joint hypermobili...	OMIM:619534
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Increased circulating antibody level, Failure to thrive secondary to recurrent infectio...	ORPHA:169160
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hyperactivity, Pectus excavatum, Lower limb hypertonia, Short distal phalanx of finger, Aggressiv...	OMIM:300534
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormal optic nerve morphology, Retinopathy, Rigidity, Cellulitis, Chorioretinal dysplasia, Opti...	ORPHA:2526
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Hypertonia, Limb hypertonia, Athetosis, Tremor, Dystonia, Thrombocytopenia, Ataxia...	OMIM:617710
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Mucopolysaccharidosis Type 2, Attenuated Form	Dermatan sulfate excretion in urine, Cognitive impairment, Retinopathy, Abnormal foveal morpholog...	ORPHA:217093
48,Xxxy Syndrome	Hypoplasia of penis, Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Hip dislocat...	ORPHA:96263
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Scoliosis, Vertebral segmentation defect, Urogenital sinus anom...	ORPHA:2970
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Hyposp...	OMIM:301040
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Hemolytic-uremic syndrome, Acute myeloid leukemia, Impaired pla...	ORPHA:2968
Dihydropyrimidinase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity, Elevated urinary dihydrouracil ...	OMIM:222748
Seckel Syndrome 1	Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Cone-shaped epiphyses of the phalanges o...	OMIM:210600
Leptospirosis	Anorexia, Acute kidney injury, Optic neuritis, Chorioretinitis, Macular cotton wool spot, Retinal...	ORPHA:509
Magel2-Related Prader-Willi-Like Syndrome	Increased body weight, Hypopigmentation of the skin, Kyphosis, Cognitive impairment, Impulsivity,...	ORPHA:398069
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Fasciculations, Congenital finger flexion contractures, Upper limb amyotrop...	ORPHA:466768
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Ectropion, Small nail, Short humerus, Dysphagia, Long toe, Del...	OMIM:264090
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Attention deficit hyperactivity disorder, Decreased ci...	OMIM:300310
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, ...	ORPHA:2180
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Thickened rib...	OMIM:122860
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:211600
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei...	OMIM:620376
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,...	ORPHA:429
Bloom Syndrome	Clinodactyly of the 5th finger, Hypopigmentation of the skin, Cafe-au-lait spot, Decreased circul...	OMIM:210900
Mosaic Trisomy 20	Fused cervical vertebrae, Horseshoe kidney, Narrow chest, Scoliosis, Vertebral segmentation defec...	ORPHA:1724
Mucopolysaccharidosis Type 2, Severe Form	Dermatan sulfate excretion in urine, Cognitive impairment, Retinopathy, Abnormal foveal morpholog...	ORPHA:217085
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Viss Syndrome	Rocker bottom foot, Ectropion, Recurrent joint dislocation, Pectus carinatum, Pectus excavatum, K...	OMIM:619472
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Babinski sign, Inability to walk, Scoliosis, Kyphosis, Exaggerated startle respons...	OMIM:609541
Immunodeficiency 22	Anemia, Decreased circulating IgE, Panniculitis, Retinal vasculitis, Failure to thrive, Decreased...	OMIM:615758
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Ectropion, Hypertonia, Brittle hair, Increased circulating IgA level, Tiger...	OMIM:616395
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Chorea, Umbilical hernia, Joint hypermobility, O...	OMIM:601808
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Upslanted palpebral fissure, Attenuat...	OMIM:616108
Aicardi Syndrome	Optic atrophy, Butterfly vertebrae, Proximal placement of thumb, Lipoma, Retinal detachment, Scol...	OMIM:304050
Parkinson Disease 14, Autosomal Recessive	Frontotemporal dementia, Rigidity, Nocturia, Clumsiness, Aggressive behavior, Pill-rolling tremor...	OMIM:612953
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Pectus excavatum, Kyphosis, Attention deficit hyperactivity disorder, Ataxia, Sparse hair, Joint ...	OMIM:300966
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Babinski sign, Hypocalcemia, Frequent falls, Equinus calcaneus, Failure to thrive i...	ORPHA:746
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis...	OMIM:616026
White Forelock With Malformations	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,...	ORPHA:2475
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hypertonia, Inguinal hernia, Vacuolated lymphocytes, Scoliosis, Kyph...	OMIM:230500
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Hyperkinetic movements, Emotional lability, Neutropenia in presence of ...	ORPHA:525731
Dpagt1-Cdg	Head-banging, Arachnodactyly, Ataxia, Clinodactyly, Aggressive behavior, Optic atrophy, Emotional...	ORPHA:86309
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Tremor, Shuffling gait, Elevated circulating creatine kinase concentration, Waddl...	ORPHA:209335
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho...	OMIM:309620
Mohr-Tranebjaerg Syndrome	Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Ap...	ORPHA:52368
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Hyperpigmentation of the skin, Osteoporosis, Micromelia, Joint stiffness...	ORPHA:2176
Klippel-Feil Syndrome 3, Autosomal Dominant	Chorioretinal coloboma, Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 verte...	OMIM:613702
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat...	OMIM:612286
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Nail dystrophy, Sandal gap, Pectus excavatum, Shallow orbits, Joint stiffne...	OMIM:619127
Sézary Syndrome	Irregular hyperpigmentation, Ectropion, Nail dystrophy, Abnormal immunoglobulin level, Abnormal l...	ORPHA:3162
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Ataxia, Umbilical hernia, Joint hypermobility, Inguinal hernia, Scoliosis,...	OMIM:617062
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, C...	OMIM:617781
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Paroxysmal dyskinesia, Abnormal vertebral morphology, Scoliosis,...	ORPHA:261197
Sandifer Syndrome	Abnormal posturing, Anemia, Torticollis, Decreased cervical spine mobility, Hiatus hernia	ORPHA:71272
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph...	OMIM:612287
Immunodeficiency 9	Amelogenesis imperfecta, Difficulty walking, Abnormal natural killer cell count, Hypoplasia of th...	OMIM:612782
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Palpebral edema, Abnormality of the orbital region, Elevated circulatin...	ORPHA:449563
Dyskeratosis Congenita, Digenic	Bilateral ptosis, Nail dystrophy, Anemia, Sparse eyelashes, Failure to thrive, Decreased circulat...	OMIM:620040
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Hypoplas...	ORPHA:3068
Canavan Disease	Optic atrophy, Hypertonia, Cognitive impairment, Abnormality of retinal pigmentation, Flexion con...	ORPHA:141
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Panniculitis, B lymphocytopenia, Broad clavicles, Reticulocytopenia, Rhizomelic arm short...	ORPHA:508542
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Hematuria, Inguinal hernia, Nephrolithiasis, Abnormality of retinal pigmentatio...	ORPHA:2196
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Hypertonia, Inability to walk, Optic nerve hypoplasia, Chorea, Spasticity, Short at...	OMIM:617864
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Kyphosis, Cognitive impairment, Joint stiffness, Fai...	ORPHA:583
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Juvenile Nephropathic Cystinosis	Polydipsia, Proximal tubulopathy, Delayed skeletal maturation, Hypophosphatemia, Elevated circula...	ORPHA:411634
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, 4-Hydroxy...	OMIM:617156
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Increased arm span, Abnormal bone ossification, Thin metacarpal cortices, Lumbar hemi...	ORPHA:2463
Cleidocranial Dysplasia	Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal...	ORPHA:1452
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplasia of penis, Hemivertebrae, Abnormal rib morpholog...	ORPHA:2234
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Decreased circulating antibody le...	OMIM:616084
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Irritability, Hypertonia, Lower limb spasticity, Spasticity, Exaggerated startle r...	OMIM:616881
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Depression, Bone pain, Parathormone-independent increased renal t...	OMIM:600740
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Delayed skeletal maturation, Hyperconv...	OMIM:224690
Robinow Syndrome	Kyphoscoliosis, Nail dysplasia, Mesomelic arm shortening, Small nail, Mesomelia, Bifid distal pha...	ORPHA:97360
Familial Congenital Mirror Movements	Clumsiness, Poor fine motor coordination, Fused cervical vertebrae, Cerebral palsy	ORPHA:238722
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno...	ORPHA:95699
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Anorexia, Genu valgum, Retinal detachment, Pectus carinatum, Scoliosis, Sparse sca...	ORPHA:394
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno...	ORPHA:1797
X-Linked Cerebral Adrenoleukodystrophy	Oculomotor apraxia, Hyperactivity, Spastic tetraparesis, Decreased circulating cortisol level, At...	ORPHA:139396
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Cantú Syndrome	Low posterior hairline, Delayed skeletal maturation, Accelerated skeletal maturation, Umbilical h...	ORPHA:1517
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia, Tongue fasciculations, Flexion contracture	OMIM:619851
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Aicardi-Goutieres Syndrome 7	Irritability, Hypertonia, Anemia, Increased circulating antibody level, Limb hypertonia, Pancytop...	OMIM:615846
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Recurrent fractures, Wo...	OMIM:166210
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit...	OMIM:610967
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Disloc...	OMIM:618395
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal ri...	ORPHA:2759
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Decreased calvarial ossif...	OMIM:259440
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Rib fusion, Hydro...	OMIM:271520
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Fused cervical vertebrae, Unilateral renal agenesis, Spina bifida occulta, P...	OMIM:619227
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Thin clavicles, Hypocalcemia, Delayed cranial su...	ORPHA:93324
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx...	ORPHA:2636
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypokalemia, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular a...	OMIM:602722
Hardikar Syndrome	Irritability, Bladder exstrophy, Hydroureter, Pyelonephritis, Hyperbilirubinemia, Vesicoureteral ...	OMIM:301068
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Ataxia, Dysphagia, Myoclonus, Joint hypermobility, Widow's peak, Agitation, Scoliosis...	OMIM:619229
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria, Hyperkinetic movements, Rhizomelia, Spasticity, Tremor, Myoclonus, D...	OMIM:616271
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Abnormal temper tantrums, Hypopigmentation of hair, Scoliosis, Hypopigmentation of th...	ORPHA:398079
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Pectus excava...	OMIM:613458
Lowry-Wood Syndrome	Limited elbow extension, Multiple joint dislocation, Clinodactyly of the 5th finger, Irregular ep...	OMIM:226960
Thymoma	Aplastic anemia, Glomerulonephritis, Decreased circulating antibody level, Abnormal lymphocyte ph...	ORPHA:99867
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory...	OMIM:618394
Vertebral Hypersegmentation And Orofacial Anomalies	Inguinal hernia, Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs, Ep...	OMIM:619122
Hyperlysinemia	Argininuria, Neck hypertonia, Hyperactivity, Decreased urine alpha-ketoglutarate concentration, S...	ORPHA:2203
Immunodeficiency 76	B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral ptosis, Small nail, Aggressive behavior, Sacral dimple, Inguinal hernia, Absent eyelash...	ORPHA:544488
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Decreased adipose tissue around neck, Polyuria, Babinski sign, Loss of subc...	OMIM:606721
Caffey Disease	Increased circulating antibody level, Scoliosis, Calvarial hyperostosis, Periosteal thickening of...	ORPHA:1310
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Red hair, Increased adipose tissue, Hypopigmentation of the skin...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Red hair, Increased adipose tissue, Hypopigmentation of the skin...	ORPHA:71526
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormal pyramidal sign, Babinski sign, Spasticity, Abnormality of retinal pigmentation	ORPHA:397951
Palmoplantar Keratoderma, Epidermolytic, 1	Palmar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis	OMIM:144200
Netherton Syndrome	Irregular hyperpigmentation, Trichorrhexis nodosa, Ectopic kidney, Abnormal hair morphology, Incr...	ORPHA:634
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Generalized bone demineralization, Nephrotic syndrome, Mucopolysaccha...	OMIM:215250
Mulibrey Nanism	Thickened cortex of long bones, Enamel hypoplasia, Single transverse palmar crease, Pigmentary re...	OMIM:253250
Micro Syndrome	Optic atrophy, Hypoplasia of penis, Scoliosis, Spasticity, Kyphosis, Retinal coloboma, Joint stif...	ORPHA:2510
49,Xxxxy Syndrome	Hypoplasia of penis, Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Hip dislocat...	ORPHA:96264
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Myelofibrosis, Bone marrow hypo...	OMIM:301078
Neonatal Adrenoleukodystrophy	Optic atrophy, Ptosis, Abnormality of retinal pigmentation, Bilateral single transverse palmar cr...	ORPHA:44
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Spinal rigidity, Retinal dysplasia, Retinal detachment, Scoliosis, Elevated circul...	OMIM:253800
Legius Syndrome	Polydactyly, Inguinal freckling, Xanthelasma, Clinodactyly of the 5th finger, Hyperactivity, Abno...	ORPHA:137605
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Premature graying of hair, Nail dystrophy, Nail dysplasia, Avascular necrosis, P...	OMIM:613989
Wiedemann-Steiner Syndrome	Hyperactivity, Pectus excavatum, Delayed skeletal maturation, Accelerated skeletal maturation, Dy...	ORPHA:319182
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Highly arched eyebrow, Hypoplastic iliac ...	OMIM:180849
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Abnormal form of the vertebral b...	ORPHA:1486
Monosomy 18Q	Kyphoscoliosis, Poor coordination, Abnormal retinal morphology, Pectus excavatum, Atlantoaxial ab...	ORPHA:1600
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Obesity, Brachydactyly, Rod-cone dystrophy, Pigmentary r...	OMIM:600151
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Ectropion, Pectus excavatum, Congenital hip dis...	OMIM:263750
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Uncombable hair, Abnormality of retinal pigmentation, Brachydactyly, Spa...	ORPHA:1264
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Limited knee extension, Kyphosis, Pectus excavatum, Persistent...	OMIM:304150
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, A...	ORPHA:2311
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Arthritis, Decreased circulating antibody level, Decreased circulati...	OMIM:616100
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anorexia, Asymmetry of the thorax, Finger syndactyly, Cachexia, Scoliosis, Generalized hypopigmen...	ORPHA:1969
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Clubbing, Tibial bowing, Short long bone, Dysphagia, ...	OMIM:601559
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Ectopic kidney, Hyperpigmentation of the skin, S...	ORPHA:94063
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:3035
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal form of the vertebral bodi...	ORPHA:818
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypertonia, Reduced bone mineral density, Abnormal hip bone morphology, Generalized hypopigmentat...	ORPHA:2720
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing, Dermatan sulfate exc...	OMIM:253200
Achondrogenesis Type 1A	Narrow chest, Short thorax, Short foot, Abnormal enchondral ossification, Micromelia, Femoral her...	ORPHA:93299
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Decreased circulating total IgM, Congenital megaureter, Slender...	ORPHA:369837
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Inguinal hernia, White hair...	ORPHA:935
Hypercholanemia, Familial 1	Rickets, Failure to thrive, Steatorrhea, Increased serum bile acid concentration	OMIM:607748
Mucolipidosis Type Ii	Kyphosis, Cognitive impairment, Shallow orbits, Splenomegaly, Umbilical hernia, Limited shoulder ...	ORPHA:576
Bone Marrow Failure Syndrome 4	Rhizomelia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Difficulty walking, Urinary i...	ORPHA:169189
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Leber Congenital Amaurosis	Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Chilblain Lupus	Finger swelling, Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Dicarboxylic aciduria, Hypophosphatemia, Increased circulating free fatty acid level...	OMIM:605911
Thyrotoxic Periodic Paralysis	Hyperkalemia, Paralysis, Transient hypophosphatemia, Respiratory paralysis, Tetraplegia, Urinary ...	ORPHA:79102
Waardenburg Syndrome, Type 1	Premature graying of hair, Telecanthus, Blepharophimosis, Heterochromia iridis, Synophrys, White ...	OMIM:193500
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Tremor, Elevated circulating creatine kinase concentration, Compulsive ...	OMIM:619405
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Small nail, Hypo...	ORPHA:96334
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Large for gestational age, Hypospadias, Hyperactivity, Gait disturban...	ORPHA:457485
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Difficulty walking, Appendicular spasticity, Hyperalaninemia, Exaggerated startle ...	OMIM:620451
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Short attention span, Abnormal rib morphology, Impulsivity, Dysphagia	ORPHA:280195
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Ectopic kidney, Dislocated radial h...	OMIM:122470
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Atypical Progressive Supranuclear Palsy Syndrome	Kyphoscoliosis, Inappropriate behavior, Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatom...	ORPHA:99750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Frontometaphyseal Dysplasia 2	Dislocated radial head, Short metacarpal, Pectus excavatum, Broad thumb, Keloids, Scoliosis, Hirs...	OMIM:617137
Brittle Cornea Syndrome	Retinal detachment, Scoliosis, Abnormality of hair pigmentation, Corneal scarring, Osteoporosis, ...	ORPHA:90354
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Butterfly vertebral arch, Renal tubular acidosis, C...	OMIM:118450
Cranioectodermal Dysplasia 2	Short ribs, Pectus excavatum, Mesomelia, Syndactyly, Splenomegaly, Sparse hair, Joint hypermobili...	OMIM:613610
Intellectual Disability, Buenos-Aires Type	Spastic gait, Reduced bone mineral density, Clinodactyly of the 5th finger, Hyperconvex thumb nai...	ORPHA:3079
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor...	ORPHA:1488
Hallermann-Streiff Syndrome	Hyperactivity, Hyperlordosis, Pectus excavatum, Sparse hair, Joint hypermobility, Fine hair, Decr...	OMIM:234100
Gracile Bone Dysplasia	Flared metaphysis, Hypocalcemia, Slender long bone, Thin ribs, Decreased skull ossification, Aspl...	OMIM:602361
Asparagine Synthetase Deficiency	Irritability, Hypertonia, Hypoasparaginemia, Limb hypertonia, Optic nerve hypoplasia, Tremor, Exa...	OMIM:615574
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Hypertonia, Difficulty walking, Increased total iron binding capacity, Truncal atax...	ORPHA:309854
Kagami-Ogata Syndrome	Kyphoscoliosis, Short palpebral fissure, Long clavicles, Bell-shaped thorax, Inguinal hernia, Thi...	OMIM:608149
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, ...	ORPHA:280
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Angelman Syndrome	Hyperactivity, Hypopigmentation of the skin, Ataxia, Dysphagia, Myoclonus, Aggressive behavior, O...	ORPHA:72
Leber Congenital Amaurosis 8	Macular coloboma, Eye poking, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorioc...	OMIM:613835
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Hypopigmentation of the skin, Umbilical hernia, Broad ribs, Aggressive behavior, H...	OMIM:301066
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Babinski sign, Torticollis, Tongue thrusting, Oculogyric crisis, Emotional lability...	OMIM:608643
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Failure to thrive, Increased circulating IgM level, Epicanthus, Decreased circ...	OMIM:242860
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Scoliosis, Exagg...	ORPHA:320406
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela...	OMIM:301000
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Confusion, Tremor, Reticulocytosis, Increased blood urea nitrogen, Mic...	OMIM:274150
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Bone pain, Rachitic rosary, Hypercalc...	OMIM:612089
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD...	OMIM:150550
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Microphthalmia, Syndromic 3	Butterfly vertebrae, Hypospadias, Optic nerve hypoplasia, Hemivertebrae, Vertebral hypoplasia, Mi...	OMIM:206900
Apert Syndrome	Limited elbow movement, Pectus carinatum, Shallow orbits, Broad thumb, Syndactyly, Craniosynostos...	OMIM:101200
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Cognitive impairment, Hepatosplen...	ORPHA:846
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Failure to thrive, Decreased circulating IgG level,...	ORPHA:275
Autosomal Dominant Progressive External Ophthalmoplegia	Gait ataxia, Cognitive impairment, Rigidity, Ataxia, Nocturia, Dysphagia, Hypertonia, Depression,...	ORPHA:254892
Cat-Eye Syndrome	Abnormal rib morphology, Downslanted palpebral fissures, Hydronephrosis, Chorioretinal coloboma, ...	ORPHA:195
Desmoid Tumor	Abnormality of retinal pigmentation, Limitation of joint mobility, Hydronephrosis, Osteolysis	ORPHA:873
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Hypertonia, Scoliosis, Abnormal eyelash morphology, Abnormality of retinal pigment...	ORPHA:2518
Phaver Syndrome	Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Pterygium, Abnor...	ORPHA:2876
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
X-Linked Creatine Transporter Deficiency	Hypertonia, Hyperactivity, Cachexia, Chorea, Athetosis, Ptosis, Dystonia, Ataxia, Joint hypermobi...	ORPHA:52503
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog...	ORPHA:2769
Incontinentia Pigmenti	Kyphoscoliosis, Nail dysplasia, Nail dystrophy, Ridged nail, Sparse hair, Fine hair, Optic atroph...	OMIM:308300
Retinitis Pigmentosa 51	Polydactyly, Bone spicule pigmentation of the retina, Macular degeneration, Obesity, Attenuation ...	OMIM:613464
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Neu-Laxova Syndrome	Rickets, Osteopenia, Pterygium, Abnormal hair morphology, Scoliosis, Abnormal eyelash morphology,...	ORPHA:2671
Wildervanck Syndrome	Short neck, Fused cervical vertebrae, Low posterior hairline, Pseudopapilledema	ORPHA:3456
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Optic neuritis...	ORPHA:436159
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Osteogenesis Imperfecta, Type X	Tibial bowing, Shallow orbits, Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobilit...	OMIM:613848
Becker Nevus Syndrome	Lipoatrophy, Hypermelanotic macule, Abnormal tibia morphology, Spina bifida occulta, Pectus carin...	ORPHA:64755
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp...	OMIM:614524
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica...	OMIM:200600
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Hypermelanotic macule, Aplastic/hypoplastic toenail, B...	ORPHA:1775
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertonia, Chorea, Spasticity, Hyperalaninemia, Gait ataxia, Failure to thrive, D...	ORPHA:255210
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Single transverse palmar crease, Hypopigmentation of the skin, Hypopigmentatio...	OMIM:618541
Mucolipidosis Type Iv	Genu recurvatum, Gait disturbance, Retinopathy, Abnormality of retinal pigmentation, Ataxia, Palm...	ORPHA:578
Ziegler-Huang Syndrome	Macrocytic anemia, Persistence of hemoglobin F, Delayed skeletal maturation, Bone marrow hypocell...	OMIM:620501
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Shallow orbits, Opisthotonus, Hyperconvex nail, Short distal ph...	OMIM:269150
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Agitation, Truncal titubation, Clinodactyly of the 5th finger, Hypertonia, Limb hypertonia, Tremo...	OMIM:618056
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Tibial bowing, Shallow orbits, Delayed skeletal maturation, Flexion contracture of f...	OMIM:601812
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti...	OMIM:611926
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Tremor, Methylmalonic aciduria, Dysmetria	OMIM:615578
Gapo Syndrome	Abnormal metaphysis morphology, Hypopigmented skin patches, Optic atrophy, Abnormal clavicle morp...	ORPHA:2067
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Cognitive impairment, Brachyd...	ORPHA:2145
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Tremor, Polycythemia, Opisthotonus, Methemoglobinemia	OMIM:250800
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Alkaptonuria	Limitation of knee mobility, Decreased glomerular filtration rate, Intervertebral disk degenerati...	OMIM:203500
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Agitation, Hypophosphatemic rickets, Increased body weight, Tremor, Gl...	ORPHA:263455
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Narrow greater sciatic notch, Enlarged kidney, Short greater sci...	OMIM:312870
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypop...	OMIM:114290
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Sandhoff Disease	Urinary incontinence, Progressive psychomotor deterioration, Fasciculations, Spasticity, Upper mo...	OMIM:268800
Bloom Syndrome	Decreased circulating total IgM, Acute myeloid leukemia, Paronychia, Decreased proportion of CD4-...	ORPHA:125
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Scoli...	ORPHA:98793
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Limited elbow movement, Nail dystrophy, Joint stiffness, Pathologic fracture, Delaye...	OMIM:614008
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Scoli...	ORPHA:177904
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Hyperkinetic movements, Inability to walk, Truncal ataxia, Scoliosis, Athetos...	OMIM:615356
Bardet-Biedl Syndrome 1	Radial deviation of finger, Bone spicule pigmentation of the retina, Hyperautofluorescent macular...	OMIM:209900
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc...	ORPHA:968
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Scoli...	ORPHA:177901
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia, Micropenis, Overla...	OMIM:615966
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Hypoplastic fingernail, Bell-shape...	ORPHA:2021
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Tibial bowing, Femoral bowing, Short metacarpal, Retinal atrophy, S...	OMIM:608940
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ...	OMIM:187760
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Abnormal temper tantrums, Hypopigmentation of hair, Scoliosis, Hypopigmentation of th...	ORPHA:98754
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Congenital diaphragmatic hernia, Finger syndactyly, Abnormal rib morp...	ORPHA:1647
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Arachnodactyly, Scoliosis, Abnormality of retinal pigmentation	ORPHA:171844
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Arnold-Chiari Malformation Type I	Babinski sign, Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Progressive...	ORPHA:268882
Erythrocytosis, Familial, 2	Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,...	OMIM:263400
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ve...	ORPHA:79345
Angelman Syndrome Due To A Point Mutation	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Hypopigmentation of...	ORPHA:411511
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Irritability, Hypertonia, Babinski sign, 2-3 toe syndactyly, Tremor, Spasticity, Glycosuria, Fail...	OMIM:616539
Parathyroid Carcinoma	Polydipsia, Lipoma, Bone pain, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Re...	ORPHA:143
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Avascular necrosis, Pancytopenia, Increased bone mi...	ORPHA:77261
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Fanconi Renotubular Syndrome 3	Rickets, Low-molecular-weight proteinuria, Renal insufficiency, Glycosuria, Hyperphosphaturia, El...	OMIM:615605
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig...	OMIM:300755
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Spasticity, Retinal pigment epithelial mottling, Restlessness	OMIM:619517
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Spasticity, ...	OMIM:615512
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Pen...	ORPHA:73230
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Overlapping fingers, Short palpebral fissure, Blepharophimosis, Decreased circulat...	OMIM:606056
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, ...	OMIM:179800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Nail dystrophy, Decreased glomerular filtration rate, Narrow chest, Sparse scalp hair, Focal segm...	OMIM:614748
Williams Syndrome	Abnormal circulating lipid concentration, Abnormal form of the vertebral bodies, Hypoplasia of pe...	ORPHA:904
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Pectus excavatum, Shallow orbits, Arachnodactyly, Umbil...	OMIM:182212
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Short metacarpal, Camptodactyly, Ptosis, Downslanted palpebral fissures,...	OMIM:614230
Argininemia	Spastic gait, Irritability, Anorexia, Oroticaciduria, Reduced erythrocyte arginase activity, Hype...	OMIM:207800
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,...	OMIM:184460
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Fasciculations, Tremor, Hand muscle weakness, Intrinsic han...	ORPHA:99965
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br...	OMIM:617405
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F...	OMIM:203300
Prader-Willi Syndrome Due To Translocation	Head-banging, Stellate iris, Hypopigmentation of the skin, Overlapping toe, Clinodactyly, Clinoda...	ORPHA:177907
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Short long bone, Asplenia, Bilateral talipes equinovarus, Failure to thrive, Con...	OMIM:306955
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Chorioretinal atrophy, Retinopathy, Failure to thrive, Abnorma...	ORPHA:5
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Palpebral edema, Abnormal lacrimal duct morphology, Keratoconjunctiviti...	ORPHA:79078
Pontine Tegmental Cap Dysplasia	Oculomotor apraxia, Scoliosis, Hemivertebrae, Rib fusion, Failure to thrive, Head titubation, Pto...	OMIM:614688
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Fibular hypoplasia, Hypospadias, Curly ha...	ORPHA:444077
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Blepharitis, Failure to thrive, Paronychia, Onychogryposis	OMIM:614328
Riddle Syndrome	Emotional lability, Arthritis, Enuresis nocturna, Gait disturbance, Conjunctival telangiectasia, ...	ORPHA:420741
1P36 Deletion Syndrome	Hypoplasia of penis, Kyphosis, Joint stiffness, Abnormal eyebrow morphology, Dysphagia, Optic atr...	ORPHA:1606
Spastic Tetraplegia And Axial Hypotonia, Progressive	Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Exaggerat...	OMIM:618598
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ...	ORPHA:1507
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Hype...	ORPHA:35078
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint...	ORPHA:2772
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Narrow chest, Angulated hu...	OMIM:616229
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Pectus excavatum, Abnormal optic disc morphology,...	ORPHA:96121
Lethal Congenital Contracture Syndrome 5	Thin ribs, Elevated circulating creatine kinase concentration, Retinal hemorrhage, Congenital con...	OMIM:615368
Alexander Disease	Osteopenia, Hyperpigmented nevi, Depression, Emotional lability, Scoliosis, Hyperlordosis, Tremor...	ORPHA:58
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Brittle Cornea Syndrome 1	Red hair, Spondylolisthesis, Scoliosis, Congenital hip dislocation, Dentinogenesis imperfecta, Ep...	OMIM:229200
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Delayed skeletal maturation, Joint hypermobility, Cone-shaped ep...	OMIM:157800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Keratoconjunctivitis, Asplenia, Enamel hypoplasia, Nephrocalcinosis, Vitiligo, Al...	OMIM:240300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc...	OMIM:300863
Lethal Congenital Contracture Syndrome 10	Stiff neck, Torticollis, Narrow chest, Femoral bowing, Short long bone, Hypoplasia of the thymus,...	OMIM:617022
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Emotional lability, Exaggerated startle response, Rigidity, Lumbar hyp...	ORPHA:3198
Bile Acid Conjugation Defect 1	Rickets, Conjugated hyperbilirubinemia	OMIM:619232
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, A...	OMIM:145350
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Congenital Myopathy 22B, Severe Fetal	Spinal rigidity, Tapered toe, Slender long bone, Shoulder flexion contracture, Scoliosis, Elbow f...	OMIM:620369
Osteogenesis Imperfecta, Type Iii	Slender long bone, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Decreased calvarial ossificatio...	OMIM:259420
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Vertebral segmentation defect, Abnormal rib morphology, Low posterior hairline, S...	ORPHA:2578
Cerebrofaciothoracic Dysplasia	Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Low posterior ...	ORPHA:1394
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Chorea, Cognitive impa...	ORPHA:289390
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Uremic Pruritus	Abnormal circulating cytokine concentration, Hypermagnesemia, Depression, Increased blood urea ni...	ORPHA:94059
Garg-Mishra Progeroid Syndrome	Narrow chest, Small nail, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Cafe...	OMIM:620601
Mosaic Trisomy 8	Hypopigmented skin patches, Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Sco...	ORPHA:96061
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Alopecia of scalp, Increased circulating IgE level, Sparse scalp hair, F...	ORPHA:90368
Joubert Syndrome With Hepatic Defect	Inguinal hernia, Renal insufficiency, Highly arched eyebrow, Oculomotor apraxia, Scoliosis, Tremo...	ORPHA:1454
Alagille Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Butterfly vertebral arch, Abnormal form o...	ORPHA:52
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog...	ORPHA:309246
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal...	OMIM:173800
Neurocutaneous Melanocytosis	Hemiparesis, Abnormality of retinal pigmentation, Generalized hirsutism, Chorioretinal coloboma, ...	ORPHA:2481
Adult Idiopathic Neutropenia	Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Aicardi-Goutières Syndrome	Lipoatrophy, Neonatal alloimmune thrombocytopenia, Extrapyramidal muscular rigidity, Irritability...	ORPHA:51
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Butterfly vertebrae, Congenital diaphragmatic h...	ORPHA:958
Trichinellosis	Irritability, Babinski sign, Memory impairment, Confusion, Increased circulating IgE level, Abnor...	ORPHA:863
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Narrow iliac wing, Thin ribs, Pectus exca...	OMIM:616294
Short-Rib Thoracic Dysplasia 12	Short long bone, Short ribs, Splenomegaly, Cystic renal dysplasia, Short finger, Inguinal hernia,...	OMIM:269860
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormal hip bone morphology, Hyperactivity, Self-mutilation, Impulsivity, Dysphagia, Difficulty ...	ORPHA:642
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Ptosis, Palpebral edema, Abnormality of retinal pigmentation	ORPHA:1259
Schinzel-Giedion Syndrome	Kyphoscoliosis, Stiff elbow, Generalized hypertrichosis, Tibial bowing, Shallow orbits, Dysphagia...	ORPHA:798
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Cachexia, Hypoalbuminemia, Splenomegaly, Eosin...	ORPHA:75565
Monosomy 9Q22.3	Polydactyly, Large for gestational age, Palmar pits, Abnormality of the vertebral column, Hyperac...	ORPHA:77301
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Renal Tubular Acidosis Iii	Rickets, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paral...	OMIM:267200
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr...	ORPHA:331235
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Nonketotic hyperglycinemia, Finger syndactyly, Abnormality of the nail, Scol...	ORPHA:1300
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Gabriele-De Vries Syndrome	Tip-toe gait, Frontal upsweep of hair, Sandal gap, Telecanthus, Downslanted palpebral fissures, T...	OMIM:617557
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2050
Usher Syndrome	Depression, Abnormal dental enamel morphology, Cognitive impairment, Abnormality of retinal pigme...	ORPHA:886
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Telecanthus, Broad-based gait, Short attention span, Exaggerated startle response, Long palpebral...	ORPHA:438216
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Lipoma, Bone pain, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Osteoporosis, Re...	ORPHA:99880
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Acute Intermittent Porphyria	Limb pain, Elevated urinary delta-aminolevulinic acid, Proximal muscle weakness in upper limbs, U...	ORPHA:79276
Developmental And Epileptic Encephalopathy 68	Spasticity, Exaggerated startle response, Clonus, Failure to thrive, Flexion contracture, Myoclonus	OMIM:618201
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Upslanted palpebral fissure, Hypospadias, Abnormal rib morphology	ORPHA:276422
Hermansky-Pudlak Syndrome	Anorexia, Hypopigmentation of hair, Abnormal dental enamel morphology, Ocular albinism, Hypopigme...	ORPHA:79430
Ebola Hemorrhagic Fever	Increased circulating antibody level, Thrombocytopenia, Leukopenia, Dysphagia, Lymphopenia, Lethargy	ORPHA:319218
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Falls, Axial dystonia, Progressive extrapyramidal muscula...	ORPHA:240071
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Keratoconjunctivitis sicca, Brittle hair, Small nail, Tiger...	OMIM:601675
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bone pain, Decreased circulating total IgM, Metaphyseal striations	OMIM:615139
Three M Syndrome 2	Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Pr...	OMIM:612921
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Dysphagia, Tremor, Small hand, Hyperpigmented/hypopigmented macules, ...	ORPHA:280633
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Sclerosteosis 1	Nail dysplasia, Optic atrophy, Broad clavicles, Abnormal pelvic girdle bone morphology, Cognitive...	OMIM:269500
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Scoliosis, Hypopigmentation of the skin, Polyphagia, Osteop...	ORPHA:739
Apert Syndrome	Optic atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Vertebral segmentation defect,...	ORPHA:87
Kikuchi-Fujimoto Disease	Anorexia, Palpebral edema, Anemia, Elevated circulating C-reactive protein concentration, Lymphoc...	ORPHA:50918
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Wormian bones, Femoral bowing, Thin ribs, Bowing of the long bone...	OMIM:617952
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Increased circulating antibody level, Increased circulating IgG level, ...	ORPHA:449432
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Abnormality of retinal pigmentation	ORPHA:2521
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Frontotemporal dementia, Depression, Spasticity, Tremor, Parkinsonism with favorabl...	ORPHA:199351
Renal Tubular Acidosis, Proximal	Rickets, Hypercalciuria, Proximal renal tubular acidosis, Osteomalacia, Elevated circulating crea...	OMIM:179830
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Cone-shaped epiphysis, Hypo...	ORPHA:53271
Sarcoidosis	Hypopigmentation of the skin, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal conj...	ORPHA:797
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot...	ORPHA:411527
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level...	OMIM:608106
Ellis Van Creveld Syndrome	Nail dysplasia, Delayed skeletal maturation, Short distal phalanx of finger, Hypospadias, Abnorma...	ORPHA:289
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Delayed skeletal maturation, Syndactyly, Sparse hair, Joint hypermobility, Broad...	OMIM:151050
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Macrocytic anemia, Inguinal hernia, Hyperactivity, Dilatation of...	OMIM:614294
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Flexion con...	OMIM:613154
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Multiple lentigines, Hyperactivity, Abnormal sternum morphology, Sparse hair, Joint hypermobility...	OMIM:607721
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Hyperbilirubinemia, Increased circulating IgM level, Granuloma	ORPHA:562639
Antley-Bixler Syndrome	Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Joint stif...	ORPHA:83
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Congenital diaphragmatic hernia, Epispadias, Sacral dimple, Abnormal ...	ORPHA:2556
Trisomy 1Q	Congenital diaphragmatic hernia, Congenital megaureter, Short thorax, Abnormal rib morphology, Om...	ORPHA:261344
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Obesity And Hypopigmentation	Obesity, Red hair, Polyphagia	OMIM:620195
Pyruvate Carboxylase Deficiency	Hyperammonemia, Ataxia, Lacticaciduria, Tip-toe gait, Anorexia, Elevated plasma citrulline, Incre...	ORPHA:3008
Mend Syndrome	Sacral dimple, Aggressive behavior, Telecanthus, Limb hypertonia, Hyperactivity, 2-3 toe syndacty...	ORPHA:401973
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Abnormal thumb morphology, Bilateral single transverse palmar cr...	ORPHA:1120
Monosomy 9P	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o...	ORPHA:261112
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he...	OMIM:618188
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Gait ataxia, Cognitive impairment, Action tremor, Head titubation, Ataxia, Dysphagi...	ORPHA:99027
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Facial-lingual fasciculations, Hyperactivity, Spasticity, Exaggerated startle resp...	OMIM:617281
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst, Postaxial polydactyly, Obesity, Syndactyly, Rod-cone dystrophy, Pigmenta...	OMIM:605231
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Iron deficiency anemia, Osteoporosis, Weight loss, Osteomalacia, Keratoconj...	ORPHA:309031
Van Den Ende-Gupta Syndrome	Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly, Abnormal ey...	OMIM:600920
Acquired Methemoglobinemia	Confusion, Methemoglobinemia	ORPHA:464453
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Renal insufficiency, Le...	ORPHA:469
Cog1-Cdg	Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Vertebral segmentation defect, Flat ...	ORPHA:263508
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Cellulitis, Decreased circulating IgA level, Decreased proportio...	OMIM:614878
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Nephritis, Nephrocalcinosis, Hypo...	OMIM:104200
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Butterfly vertebrae, Bowed...	OMIM:620076
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos...	OMIM:619698
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Persistence of hemoglobin F, Umbilical hernia	OMIM:619769
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Carpal bone hypoplasia, Urinary incontinence, Babinski sign, Lower l...	OMIM:601162
Alkaptonuria	Increased susceptibility to fractures, Irregular hyperpigmentation, Reduced bone mineral density,...	ORPHA:56
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp...	OMIM:184400
Kindler Epidermolysis Bullosa	Neoplasm of the urethra, Short 4th metacarpal, Ectropion, Anemia, Finger syndactyly, Abnormal den...	ORPHA:2908
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Abnormal eyelid morphology, Abnormal eyebrow morphology, Generalized hi...	ORPHA:2221
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Broad palm, Rod-cone dystrophy, Pigmentary retinopathy, Sparse hair	OMIM:268020
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Reduced bone mineral density, Osteoporosis, Delayed skeletal maturation, Obesi...	ORPHA:2235
Joubert Syndrome 8	Hypertonia, Oculomotor apraxia, Pigmentary retinopathy, Ptosis, Obesity, Ataxia, Optic disc pallor	OMIM:612291
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck	OMIM:608681
Myhre Syndrome	Abnormal metaphysis morphology, Epispadias, Short palpebral fissure, Hypospadias, Craniofacial hy...	ORPHA:2588
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Aplastic/hypoplastic toenail, Tibial bow...	ORPHA:240
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level...	OMIM:601495
Igg4-Related Thyroid Disease	Hypocalcemia, Abnormality of the ocular adnexa, Vocal cord paralysis, Increased circulating IgG4 ...	ORPHA:64744
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Yellow Fever	Acute kidney injury, Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Anuri...	ORPHA:99829
Xylt1-Cdg	Joint dislocation, Flared metaphysis, Short clavicles, Hirsutism, Short long bone, Synophrys, Bro...	ORPHA:370930
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Delayed skeletal maturation, Increased circulating IgE level	OMIM:618985
Pallister-Hall Syndrome	Nail dysplasia, Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, ...	OMIM:146510
Niemann-Pick Disease Type C	Chorea, Limb dystonia, Cognitive impairment, Ataxia, Splenomegaly, Dysphagia, Myoclonus, Clumsine...	ORPHA:646
Sandhoff Disease, Infantile Form	Spasticity, Exaggerated startle response, Hepatosplenomegaly, Cherry red spot of the macula, Myoc...	ORPHA:309155
Birt-Hogg-Dubé Syndrome	Multiple lipomas, Abnormality of retinal pigmentation	ORPHA:122
Osteogenesis Imperfecta, Type Viii	Tibial bowing, Femoral bowing, Short metacarpal, Decreased skull ossification, Kyphosis, Multiple...	OMIM:610915
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Small nail, Prominent fing...	OMIM:229850
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Irritability, Hypophosphatemic rickets, Fused cervical verte...	ORPHA:51608
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Decrea...	OMIM:600002
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Hip dislocation, Hypoplasia of the u...	OMIM:200980
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Thin ribs, Vesicoureteral reflux, Decreased body weight, Decreased calvarial o...	OMIM:618265
Jalili Syndrome	Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes...	ORPHA:1873
Sotos Syndrome	Ureteral duplication, Small nail, Hypopigmentation of the skin, Pectus excavatum, Kyphosis, Accel...	ORPHA:821
Gerstmann-Straussler Disease	Limb ataxia, Bradykinesia, Apraxia, Memory impairment, Depression, Emotional lability, Truncal at...	OMIM:137440
Q Fever	Anorexia, Anemia, Increased circulating antibody level, Hematuria, Cryoglobulinemia, Granuloma, H...	ORPHA:781
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine, Arachn...	OMIM:225400
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia, Septic arthritis, Abscess	OMIM:612260
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Heimler Syndrome 1	Amelogenesis imperfecta, Macular dystrophy, Leukonychia, Beau's lines, Enamel hypoplasia, Retinal...	OMIM:234580
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood ves...	ORPHA:791
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal circulating interferon-gamma concentration, Osteopenia, Autoimmune hemolytic anemia, B l...	ORPHA:391487
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia, Polyphagia, Obesity, Decreased circulating cortisol level	OMIM:609734
Vacterl/Vater Association	Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Ectopic kidney, Hypopla...	ORPHA:887
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol...	OMIM:617718
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Ptosis, Hypopigmentation of hair, Alopecia	ORPHA:1067
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level, Weight loss	ORPHA:723
Dyskeratosis Congenita, Autosomal Recessive 8	Nail dystrophy, Pancytopenia, B lymphocytopenia, Sparse scalp hair, Bone marrow hypocellularity, ...	OMIM:620133
Menkes Disease	Chorea, Pectus excavatum, Sparse hair, Umbilical hernia, Joint hypermobility, Hernia, Chondrocalc...	ORPHA:565
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short l...	OMIM:200610
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr...	OMIM:617895
Charge Syndrome	Self-mutilation, Absent tibia, Abnormal palmar dermatoglyphics, Dysphagia, Umbilical hernia, Bifi...	OMIM:214800
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,...	OMIM:229600
Corpus Callosum Agenesis-Neuronopathy Syndrome	Craniosynostosis, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis	ORPHA:1496
Oculocutaneous Albinism Type 1	Iris transillumination defect, Optic nerve misrouting, Abnormal morphology of the choroidal vascu...	ORPHA:352731
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Zttk Syndrome	Kyphosis, Cervical ribs, Joint hypermobility, Craniosynostosis, Optic atrophy, Scoliosis, Hemiver...	OMIM:617140
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, B...	OMIM:616300
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Pectus excavatum, Arachnodactyly, Craniofacial osteosclerosis, Delaye...	OMIM:300373
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Highly arched eyebrow, Optic nerve hypoplasia, Hyperactivity, Pectus excavatu...	ORPHA:508488
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Scoliosis, Wormian bones, Downslanted...	OMIM:269300
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Arthropathy, Osteomalacia, Recurrent fractures, Chondrocalcinosis, ...	OMIM:146300
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal rib morphology, Mul...	ORPHA:1318
Pseudo-Torch Syndrome 2	Thin ribs, Thrombocytopenia, Lethargy, Abnormal renal corticomedullary differentiation	OMIM:617397
Listeriosis	Irritability, Acute kidney injury, Liver abscess, Stiff neck, Pyelonephritis, Splenic abscess, Ab...	ORPHA:533
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ...	ORPHA:163966
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Dysphagia, Joint hypermobility, Short 5th finger, Short finger, Hypospadias...	OMIM:619522
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Gait imbalance, Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Hypopigmentation of...	ORPHA:98795
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Lipoma, Hypocalciuria, Hypomagnesiuria, Reduced ratio of ...	ORPHA:405
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Hemivertebrae, Long palpebral f...	ORPHA:1780
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:617547
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Hydronephrosis, Limb joint...	OMIM:620327
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Gait di...	OMIM:600116
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Joint hypermobility, Increased circulating IgE level, Scoliosis, Eosinophilia, Dyspha...	OMIM:147060
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Renal Fanconi syndro...	OMIM:268315
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Transient hyperphenylalaninemia, Depression, Hyperactivity, Oculomotor apraxia...	OMIM:612716
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Absent tibia, Thoracic hypoplasia, ...	OMIM:613091
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Inability to walk, Exaggerated startle response	OMIM:620114
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia, Abnormal T cell count, Delayed skeletal maturation, Conjunctivitis, Sep...	OMIM:307200
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Ataxia, Sparse hair, Cone-shaped epiphysis, Tarsal synostosis, Brit...	ORPHA:2750
Cysticercosis	Stiff neck, Increased circulating antibody level, Memory impairment, Emotional lability, Abnormal...	ORPHA:1560
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Vertebral segme...	ORPHA:3109
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Broad lateral eyebrow, Optic nerve hypoplasia, Arachnodactyly, Absent thumb, Dysp...	ORPHA:500150
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Spondyloepimetaphyseal Dysplasia, Krakow Type	Clinodactyly of the 5th finger, Rhizomelia, Delayed pubic bone ossification, Knee flexion contrac...	OMIM:618162
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Abnormally ossified vertebrae, Septo-optic dysplasia, Aplasia/Hypoplasia involving...	ORPHA:3301
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Narrow palpebral fissure, Inguinal hernia, Single transverse palmar crease, Prominent sternum, Wr...	ORPHA:254528
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus...	OMIM:142900
Postinfectious Vasculitis	Anorexia, Hematuria, Increased circulating antibody level, Elevated circulating C-reactive protei...	ORPHA:48435
Hyper-Igd Syndrome	Arthritis, Increased circulating IgA level, Leukocytosis, Increased circulating IgD level, Neutro...	OMIM:260920
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morp...	OMIM:602196
Severe Congenital Nemaline Myopathy	Hypospadias, Thin ribs, Multiple prenatal fractures, Flexion contracture, Increased connective ti...	ORPHA:171430
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur...	OMIM:615220
Kagami-Ogata Syndrome	Kyphoscoliosis, Large for gestational age, Bell-shaped thorax, Inguinal hernia, Limitation of joi...	ORPHA:254519
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Sarcoidosis, Susceptibility To, 1	Anorexia, Enlarged lacrimal glands, Increased circulating antibody level, Pancytopenia, Hypercalc...	OMIM:181000
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone	ORPHA:1506
Charge Syndrome	Highly arched eyebrow, Dysphagia, Umbilical hernia, Bifid femur, Polydactyly, Optic atrophy, Abno...	ORPHA:138
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Hypopigmented skin patches, Nail dystrophy, Dystrophic fingernails, ...	ORPHA:2907
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystonia, Abnormal pyrami...	OMIM:272750
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Abnormality of the vertebral column, Abnormal rib morp...	OMIM:601076
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, P...	OMIM:211350
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti...	ORPHA:2167
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Hyperekplexia 1	Hypertonia, Inguinal hernia, Myoclonus, Exaggerated startle response, Frequent falls, Umbilical h...	OMIM:149400
Pyoderma Gangrenosum	Rheumatoid arthritis, Atrophic scars, Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Encephalitis Lethargica	Limb pain, Stiff neck, Urinary incontinence, Increased circulating antibody level, Tremor, Parkin...	ORPHA:83600
Gabriele-De Vries Syndrome	Sandal gap, Craniosynostosis, Breast hypoplasia, Oral-pharyngeal dysphagia, Tremor, Downslanted p...	ORPHA:506358
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Telecanthus, Spa...	ORPHA:163746
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia	OMIM:250790
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Spasticity, Thin ribs, Decreased body weight, Flexion contracture, Abnorm...	OMIM:614833
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Thoracic hypoplasia, Ulnar deviation of the hand o...	OMIM:208150
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Telecanthus, Abnormal rib morphology, Broad femoral neck, Delay...	ORPHA:488434
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Tay-Sachs Disease	Hypertonia, Exaggerated startle response, Cherry red spot of the macula, Dementia, Psychomotor de...	OMIM:272800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypertonia, Hypopigmentation of hair, Hyperpigmentation of the skin, ...	ORPHA:3214
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
African Trypanosomiasis	Urinary incontinence, Fasciculations, Optic neuritis, Splenomegaly, Aggressive behavior, Irritabi...	ORPHA:3385
Pyknoachondrogenesis	Short iliac bones, Palpebral edema, Craniofacial hyperostosis, Abnormal iliac wing morphology, Sh...	ORPHA:3003
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi...	OMIM:608328
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-4 toe cutaneous syndactyly, Palpebral edema, Hyperactivity, Poor gross motor coordination, Gait...	OMIM:614756
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnorm...	ORPHA:2519
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Difficulty walking, Tremor, Elevated circulating creatine kinase concentration,...	OMIM:164310
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Self-mutilation, Delayed skeletal maturation, Abnormality of the hairline, Dyspha...	OMIM:607872
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Ellis-Van Creveld Syndrome	Nail dysplasia, Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Narrow chest, Hypoplas...	OMIM:225500
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Shallow orbits, Join...	OMIM:277600
Elsahy-Waters Syndrome	Penoscrotal hypospadias, Cervical C2/C3 vertebral fusion, Hypospadias, Pectus excavatum, Synophry...	OMIM:211380
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Hyperekplexia 3	Hiatus hernia, Hypertonia, Exaggerated startle response, Myoclonus	OMIM:614618
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyn...	OMIM:263520
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Trachyonychia, Alopecia totalis, Decreased circulating total IgM...	OMIM:615577
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Clinodactyly of the 5th finger, Hypopigmentation of hair, Telecanthus, Finger syndac...	ORPHA:1974
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Clinodactyly of the 5th finger, Ectopic kidney, 10 pairs of...	OMIM:117650
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Hyperekplexia 2	Hiatus hernia, Hypertonia, Exaggerated startle response, Myoclonus	OMIM:614619
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Telecanthus, Het...	ORPHA:3440
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Hypertonia, Spasticity, Exaggerated startle response, Epiblepharon, Short humerus, ...	OMIM:618367
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Diaphyseal dysplasia, Platyspondyly, Optic nerve compression, Increased interverte...	OMIM:619727
Ear-Patella-Short Stature Syndrome	Epispadias, Clinodactyly of the 5th finger, Hypospadias, Breast aplasia, Hypoplasia of penis, Sle...	ORPHA:2554
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Pectus excavatum, Multiple prenatal fractures, Dentinogenesis imperfecta, Rh...	OMIM:610682
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Ataxia, Freckling, Pigmentary retinopathy	OMIM:610651
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Retinopathy, Proteinuria, Stage 5 chronic kidney disease, Retinal pigment epithelial mot...	OMIM:219900
Hyperekplexia-Epilepsy Syndrome	Hypertonia, Exaggerated startle response	ORPHA:163985
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal ha...	ORPHA:238468
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Partial development of the penile shaft, Exaggerated startle response	OMIM:608800
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Rhizomelic arm shortening, Short metacarpal, Abnormal rib morphology, Iliac crest s...	ORPHA:93317
Radio-Renal Syndrome	Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microme...	ORPHA:3015
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Developmental And Epileptic Encephalopathy 8	Hypertonia, Exaggerated startle response	OMIM:300607
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Short humerus,...	OMIM:218600
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir...	ORPHA:790
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Sh...	OMIM:261540
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Restrictive Dermopathy	Ureteral duplication, Sparse or absent eyelashes, Thoracic kyphoscoliosis, Decreased skull ossifi...	ORPHA:1662
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Dextrocardia	Abnormality of the ureter, Abnormality of the spleen, Abnormal rib morphology, Congenital hip dis...	ORPHA:1666
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Ramon Syndrome	Scoliosis, Decreased body weight, Pigmentary retinopathy, Kyphosis, Optic disc pallor, Juvenile r...	OMIM:266270
Myotubular Myopathy With Abnormal Genital Development	Hypospadias, Glandular hypospadias, Thin ribs, Neonatal death, Joint hypermobility, Penile hyposp...	OMIM:300219
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Nail dysplasia, Cone-shaped epiphysis, Aplasia of the epiglottis, Narrow chest, Short clavicles, ...	OMIM:617088
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Irritability, Hypertonia, Oculogyric crisis, Hyperphenylalaninemia, Tremor, Cerebral palsy, Abnor...	ORPHA:1578
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Penoscrotal hypospadias, Glandular hypospadias, Thin ribs, Joint hypermobility, Penile hypospadia...	ORPHA:456328
Pallister-Hall Syndrome	Nail dysplasia, Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical herni...	ORPHA:672
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Townes-Brocks Syndrome	Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Multiple renal cyst...	ORPHA:857
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum...	OMIM:192350
Retinitis Pigmentosa 74	Polydactyly, Pigmentary retinopathy, Obesity, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Craniofacial Microsomia 1	Genu valgum, Ectopic kidney, Upper eyelid coloboma, Scoliosis, Hemivertebrae, Vertebral hypoplasi...	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	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Arthritis, Decreased specific pneumococcal antibody level, Rheumatoid arthritis, D...	ORPHA:183675
Unilateral Polymicrogyria	Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, ...	ORPHA:268943
Leber Congenital Amaurosis 15	Eye poking, Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retin...	OMIM:613843
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Omphalocele, Coat hanger sign of ribs, Thoracic hypoplasia, Umbilical ...	ORPHA:254534
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor...	OMIM:300291
Fraser Syndrome	Urethral atresia, Hypospadias, Hypoplasia of penis, Finger syndactyly, Vertebral segmentation def...	ORPHA:2052
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Short 5th finger, Decreased circulating antibody level, Decreased ci...	ORPHA:1951
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Polycystic kidney dysplasia, Thin ribs, Short ribs, Sh...	ORPHA:3404
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hypospadias, Single transverse palmar crease, Chordee, Micropeni...	OMIM:309801
Enhanced S-Cone Syndrome	Retinoschisis, Vitreoretinopathy, Macular edema, Pigmentary retinopathy	OMIM:268100
Pagod Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Abnormal clavicle morphology, Abnormal rib morpho...	ORPHA:991
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:1112
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Cancer-Associated Retinopathy	Granular macular appearance, Optic atrophy, Retinal atrophy, Optic disc pallor, Retinal pigment e...	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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