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Gene: Pepd MGI:97542

Gene Summary

Name:

peptidase D

Synonyms:

dal, Pep4, Pep-4, peptidase D

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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 joint morphology	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.60×10^-10
increased thigmotaxis	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.39×10^-05
decreased circulating iron level	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.97×10^-06
decreased B cell number	Pepd^{tm1b(KOMP)Wtsi}	HOM	Late adult	1.73×10^-05
prolonged RR interval	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	7.45×10^-07
abnormal behavior	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.39×10^-05
decreased CD5-positive Ly6C-positive T cell number	Pepd^{tm1b(KOMP)Wtsi}	HOM	Late adult	3.14×10^-05
abnormal retina morphology	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.58×10^-05
decreased transitional stage T1 B cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased vertical activity	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.63×10^-07
increased effector memory CD8-positive, alpha-beta T cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased follicular B cell number	Pepd^{tm1b(KOMP)Wtsi}	HOM	Late adult	1.07×10^-05
increased circulating aspartate transaminase level	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.35×10^-05
decreased mean corpuscular volume	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.53×10^-09
decreased bone mineral content	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.91×10^-08
increased circulating insulin level	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.80×10^-08
increased circulating unsaturated transferrin level	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.25×10^-06
increased memory-marker CD4-negative NK T cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.75×10^-05
abnormal cornea morphology	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.11×10^-05
small stomach	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased bone mineral density	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.13×10^-06
abnormal optic disk morphology	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.75×10^-15
abnormal retina morphology	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	9.34×10^-06
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased Ly6C-positive NK T cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal bone structure	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.37×10^-08
decreased B-2 B cell number	Pepd^{tm1b(KOMP)Wtsi}	HOM	Late adult	1.91×10^-05
hyperactivity	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.26×10^-05
decreased heart rate	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.91×10^-06
increased CD4-positive, alpha-beta T cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased memory-marker NK cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.73×10^-06
enlarged lymph nodes	Pepd^{tm1b(KOMP)Wtsi}	HOM	Late adult	0.00
decreased immature B cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
increased effector memory T-helper cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
short tibia	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.09×10^-07
decreased locomotor activity	Pepd^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.56×10^-07
decreased mean corpuscular hemoglobin	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.58×10^-05
increased leukocyte cell number	Pepd^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.90×10^-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

20 Images

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Eye Morphology

Images Slit Lamp

4 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

42 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

22 Images

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Bone marrow immunophenotyping

Images associated with FACS analysis

10 Images

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Eye Morphology

Images Ophthalmoscopy

7 Images

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Anti-nuclear antibody assay

Images

14 Images

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DSS Histology

Images

4 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

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

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

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

View all 68 images

Pepd^{tm1a(KOMP)Wtsi}
abnormal placement of pupils, HOM, Female, WTSI

Pepd^{tm1a(KOMP)Wtsi}
persistence of hyaloid vascular system, HOM, Female, WTSI

Pepd^{tm1a(KOMP)Wtsi}
abnormal pupil morphology, abnormal placement of pupils, HOM, Male, WTSI

Pepd^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Pepd^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

View all 11 images

Human diseases caused by Pepd 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 Pepd (2 diseases)
Human diseases predicted to be associated with Pepd (1744 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Prolidase Deficiency		Abnormality of retinal pigmentation, Recurrent cystitis, Abnormal fingernail morphology, Low ante...	ORPHA:742
Prolidase Deficiency		Hyperimidodipeptiduria, Facial hirsutism, Low posterior hairline	OMIM:170100

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

Disease	Matching phenotypes	Source
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral...	ORPHA:168621
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Fetal Minoxidil Syndrome	Cryptorchidism, Umbilical hernia, Ventricular septal defect, Generalized hirsutism	ORPHA:1918
Chromosome Xq27.3-Q28 Duplication Syndrome	Short stature, Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse bod...	OMIM:300869
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:163976
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Cln3 Disease	Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depre...	ORPHA:228346
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Retinal degeneration	OMIM:617173
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Attention deficit hyper...	OMIM:617182
Optic Atrophy 2	Dysdiadochokinesis, Optic atrophy, Absent Achilles reflex	OMIM:311050
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating...	ORPHA:163971
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase, Dysphagia	OMIM:620265
Ceroid Lipofuscinosis, Neuronal, 9	Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy	OMIM:609055
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Gait disturbance, Loss of amb...	OMIM:615043
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomega...	ORPHA:465508
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul...	ORPHA:168563
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho...	ORPHA:1937
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata...	ORPHA:453533
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc...	ORPHA:90791
Ribose 5-Phosphate Isomerase Deficiency	Increased level of D-threitol in plasma, Optic atrophy, Ataxia, Elevated circulating ribitol conc...	OMIM:608611
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Li-Campeau Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Hypothyroidis...	OMIM:619189
Spastic Ataxia 7, Autosomal Dominant	Spastic ataxia, Dysdiadochokinesis, Optic atrophy	OMIM:108650
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, External genital hypoplasia, Short stature, Patent ductus...	OMIM:249670
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Br...	ORPHA:95717
Spasticity, Childhood-Onset, With Hyperglycinemia	Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance	OMIM:616859
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri...	OMIM:212138
49,Xxxyy Syndrome	Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi...	ORPHA:261534
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Overlapping toe, Inability to walk, Optic atrophy	OMIM:618572
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Microphthalmia, Syndromic 12	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri...	OMIM:615524
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Sonoda Syndrome	Ventricular septal defect, Short stature	OMIM:270460
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Difficu...	ORPHA:320360
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Myopathy, Myofibrillar, 1	Hyporeflexia of lower limbs, Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular ...	OMIM:601419
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Mi...	OMIM:616201
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias	ORPHA:1355
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Camptodactyly of finger, Optic atrophy, Gait ataxia, Inappropriate laughter, Flexion contracture ...	OMIM:619323
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl...	OMIM:602450
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport...	ORPHA:1354
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Br...	ORPHA:95716
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Let...	OMIM:605899
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Impulsivity, Optic atrophy, Depression, Irritability, Gait disturbance, Compulsiv...	ORPHA:216873
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Abnorm...	ORPHA:1166
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Leber Hereditary Optic Neuropathy	Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuo...	ORPHA:104
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Adams-Oliver Syndrome 4	Ventricular septal defect, Hypoplastic toenails, Patent ductus arteriosus, Atrial septal defect, ...	OMIM:615297
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell ade...	OMIM:147630
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Arthritis	OMIM:601457
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia, Dysphagia	OMIM:616276
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy, Decreased serum testosterone concentration, Premature ovarian insufficiency	ORPHA:101006
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity ...	OMIM:610539
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Abnorma...	ORPHA:40366
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra...	ORPHA:254886
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Dilated cardiomyop...	ORPHA:2515
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia	OMIM:619048
Filippi Syndrome	Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Sparse hair, Ambiguous g...	OMIM:272440
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614702
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia,...	ORPHA:49827
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Dispropor...	ORPHA:2772
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Slc35A2-Cdg	Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,...	ORPHA:356961
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect	OMIM:615731
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Aarskog-Scott Syndrome	Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc...	OMIM:305400
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg...	OMIM:235200
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Dysphagia, Hypertension, Bradyca...	ORPHA:3299
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, Ataxia	OMIM:614706
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia, Sensory axonal ...	OMIM:609286
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Robinow Syndrome	Decreased serum testosterone concentration, Small scrotum, Ventricular septal defect, External ge...	ORPHA:97360
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Autosomal Recessive Spastic Paraplegia Type 45	Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S...	ORPHA:320396
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total...	OMIM:616299
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Bilateral coxa valga, Hypertrophic cardiomyopathy	OMIM:620270
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Abnormality of the kidney, Hypopigmented skin patches, Premature grayin...	ORPHA:895
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, Sparse pubic hair, ...	ORPHA:3044
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Optic atrophy	OMIM:617830
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, Cataract, B lymphocytopenia, Hypothyroidism	OMIM:619851
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, ...	OMIM:616033
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,...	OMIM:607143
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Sarcosinemia	Peroneal muscle weakness, Ataxia, Optic atrophy, Hypersarcosinemia, Pulmonic stenosis, Emotional ...	ORPHA:3129
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No...	OMIM:618775
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Splenomegaly, Paronychia, Hypogonadism, Decreased serum testosterone...	OMIM:201100
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Short stature, Atrial ...	ORPHA:1388
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P...	ORPHA:542306
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes e...	OMIM:620306
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat...	OMIM:613327
Noonan Syndrome 9	Curly hair, Short stature, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Coarctation...	OMIM:616559
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus totalis, Cryptorchidi...	OMIM:249270
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cryptorchidism, Ventricular septal defect, Hepatomegaly	OMIM:613730
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Optic atroph...	OMIM:300438
Feingold Syndrome Type 2	Ventricular septal defect, Short stature	ORPHA:391646
Feingold Syndrome 2	Postnatal growth retardation, Ventricular septal defect, Short stature	OMIM:614326
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms	OMIM:239500
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
King-Denborough Syndrome	Ventricular septal defect, Short stature, Elevated circulating creatine kinase concentration, Cen...	OMIM:619542
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency, Common Variable, 1	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class...	OMIM:607594
Noonan Syndrome 8	Curly hair, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, P...	OMIM:615355
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia	OMIM:238700
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Atrioventricular block, Joint contracture of the 5th finger, Bradyc...	OMIM:614407
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Premature ovarian...	ORPHA:2959
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Optic atrophy, High palate	OMIM:300983
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Synophrys, Abnormal heart morphology, Atrial septal de...	ORPHA:401935
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Orofaciodigital Syndrome Viii	Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Depression, Macroglossia, Bradycardia, Attentio...	ORPHA:90674
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Hypoparathyroidism, Extramedullary hematopoiesis, Diabetes...	ORPHA:231222
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Bradykinesia, Spastic gait, Optic atrophy, Severe temper tantrums	OMIM:619052
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop...	ORPHA:79230
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia	ORPHA:2572
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Right aortic arch, Transposition of the great arteries, G...	OMIM:231060
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneration, Irritability, Re...	OMIM:256730
Spinocerebellar Ataxia, Autosomal Recessive 12	Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Spastic Paraplegia 26, Autosomal Recessive	Upper limb muscle weakness, Decreased serum testosterone concentration, Lower limb muscle weaknes...	OMIM:609195
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra...	OMIM:601005
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Pes cavus, Optic atrophy, Ataxia, Dysphagia	ORPHA:1171
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia	OMIM:618406
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus...	OMIM:179613
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Rabson-Mendenhall Syndrome	Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Atrial se...	ORPHA:769
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Hyponatremi...	ORPHA:94093
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Glo...	OMIM:234500
Spastic Paraplegia 81, Autosomal Recessive	Inability to walk, Optic atrophy, Cleft palate, Ankle clonus, Retinal vascular tortuosity, Bifid ...	OMIM:618768
Hemochromatosis, Type 2A	Congestive heart failure, Increased circulating ferritin concentration, Dilated cardiomyopathy, S...	OMIM:602390
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef...	ORPHA:2756
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Tricuspid regurgitation, Talipes, Micrognathia, Achilles tendon c...	OMIM:620351
Ceroid Lipofuscinosis, Neuronal, 3	Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degenerati...	OMIM:204200
8P23.1 Duplication Syndrome	Ventricular septal defect, Highly arched eyebrow, Adrenal insufficiency, Pulmonic stenosis, Tetra...	ORPHA:251076
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Tyshchenko Syndrome	Ventricular septal defect, Short stature, Supernumerary nipple, Thick hair, Cryptorchidism, Low a...	OMIM:615102
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Decreased/absent ankle reflexes, Optic atrophy, Cardiomyopathy, Progressive gait at...	ORPHA:1177
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Bardet-Biedl Syndrome 19	Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Pa...	OMIM:615996
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone...	ORPHA:848
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Striatonigral Degeneration, Infantile	Choreoathetosis, Optic atrophy, Dysphagia	OMIM:271930
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Cardiom...	ORPHA:79312
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran...	ORPHA:90795
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Low anterior hairline	OMIM:608227
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of peripheral n...	ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density	OMIM:619489
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri...	OMIM:618652
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Short tibia...	OMIM:601559
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Melanocytic nevus, Sp...	ORPHA:261120
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis	ORPHA:79087
Peroxisome Biogenesis Disorder 3B	Retinal dystrophy, Ataxia, Elevated circulating phytanic acid concentration, Osteoporosis, Steato...	OMIM:266510
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen...	OMIM:619510
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Hypospadias, Short stature, Patent ductus arteriosus, Atrial septal de...	OMIM:618330
Fetal Trimethadione Syndrome	Atrial septal defect, Hypospadias, Ventricular septal defect, Synophrys, Transposition of the gre...	ORPHA:1913
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Short stature, Muscular ventricular septal defect, Hydrocele testis, High ante...	OMIM:620062
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith...	OMIM:619389
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin eyebrow, Intrauterine growt...	OMIM:617635
Necrotizing Enterocolitis	Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Lethargy, Thrombocytopenia	ORPHA:391673
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Ventricular septal defect	OMIM:614876
Glutamine Deficiency, Congenital	Hypoglutaminemia, Micromelia, Hyperammonemia, Bradycardia, Camptodactyly	OMIM:610015
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Optic...	ORPHA:3152
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Lambert Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypospadias, Branchial anomaly	ORPHA:1296
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly, Hyperactivity, Optic atrophy	OMIM:300928
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce...	OMIM:301078
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Gastrointestinal dysmotility, Peda...	ORPHA:330001
Juvenile Temporal Arteritis	Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia	OMIM:614654
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas...	OMIM:619375
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Letha...	ORPHA:276556
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Short stature, Pulmonary artery stenosis, Abno...	ORPHA:75389
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Jaw claudication, Odynophagia, ...	ORPHA:221098
D-Glyceric Aciduria	Optic nerve hypoplasia, Tongue thrusting, Nonketotic hyperglycinemia, Gastroesophageal reflux, Br...	OMIM:220120
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Gastrointestinal dysmotility, Optic atrophy, Depression, Progressiv...	ORPHA:411590
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Precocious puberty, Cryptorchidism, Synophrys, Growth delay, Gonadal d...	ORPHA:3306
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge...	OMIM:615559
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Opt...	OMIM:602271
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Trimethylaminuria	Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia	OMIM:602079
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Osteoarthritis, Fasting hyperinsulinemia, Insulin resi...	ORPHA:2298
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, High palate, Talipes equinov...	OMIM:201170
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Ataxia, Optic atrophy, Depression, Dysphagia, Sensory axonal neuropathy	ORPHA:329314
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Truncal atax...	OMIM:601338
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp...	ORPHA:276580
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia, Optic atrophy, Abnormal autonomic nervous system physiology, Micrognathia	OMIM:614498
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Orofaciodigital Syndrome Ix	Toe syndactyly, Cleft palate, Hand polydactyly, Retinal coloboma, High palate, Camptodactyly, Sho...	OMIM:258865
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ...	ORPHA:1926
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels	OMIM:614504
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Macr...	ORPHA:90673
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci...	ORPHA:276
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft palate, Lobulated...	OMIM:258860
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Ad...	OMIM:220210
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, A...	ORPHA:1923
Severe Canavan Disease	Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Gastroesophageal reflu...	ORPHA:314911
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Patellar overgrowth, Hepatosplenomegaly, Arthritis, Anemia	OMIM:607115
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Hyperactivity, Optic atrophy	OMIM:274270
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Retinal vasculitis	OMIM:618969
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Hypoplastic toenails, Patent ductus arteriosus, Vasc...	OMIM:601927
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Areflexia of lower limbs, Gait d...	OMIM:311070
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy	ORPHA:397596
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Micrognath...	OMIM:608799
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Prune1-Related Neurological Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Inability to walk, Optic atroph...	ORPHA:544469
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Highly arched e...	ORPHA:500159
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Methionine Malabsorption Syndrome	Aminoaciduria, White hair, Blue irides	OMIM:250900
Methylcobalamin Deficiency Type Cble	Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia...	ORPHA:2169
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal external genitalia	ORPHA:3469
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Card...	ORPHA:27
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Compl...	OMIM:264480
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia	OMIM:617086
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpitations, Letha...	ORPHA:276575
Cinca Syndrome	Joint dislocation, Abnormality of neutrophils, Delayed closure of the anterior fontanelle, Spleno...	ORPHA:1451
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased Achilles reflex, Emotional lab...	OMIM:613672
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Short stature, Low anterior hairline, Atrial ...	OMIM:612946
Spinocerebellar Ataxia 7	Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cerebellar at...	OMIM:164500
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Ankle clonus, Tip-toe gait, Bradycardia, ...	ORPHA:565624
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperinsulinemia, ...	ORPHA:3085
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Microphthalmia, Syndromic 9	Severe short stature, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, ...	OMIM:601186
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree...	OMIM:617021
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, High palate, Broad...	OMIM:615075
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien...	ORPHA:3464
Galactokinase Deficiency	Cataract, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Nuc...	ORPHA:79237
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Cl...	ORPHA:1106
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Leber Optic Atrophy And Dystonia	Optic atrophy, Bradykinesia, Athetosis, Leber optic atrophy, Dysphagia	OMIM:500001
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Optic atrophy, Lethargy	ORPHA:26792
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Cranial hyperostosis, Optic atroph...	ORPHA:2801
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking	OMIM:619425
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Oligomenorrhea	OMIM:620393
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Central hypothyroidism, Lymphocytosis, Hy...	ORPHA:514
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr...	OMIM:617302
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio...	OMIM:246700
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Optic atrophy, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventr...	OMIM:608978
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia	OMIM:615924
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Highly arched eyebrow, ...	OMIM:618142
Filippi Syndrome	Severe short stature, Short stature, Ventricular septal defect, Supernumerary nipple, Cryptorchid...	ORPHA:3255
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Aceruloplasminemia	Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, A...	OMIM:604290
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom...	ORPHA:210110
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Gait ataxia, Peripheral axonal neuropathy, Optic atrophy, Dysphagia	OMIM:620221
Hemochromatosis, Type 2B	Congestive heart failure, Elevated transferrin saturation, Increased circulating ferritin concent...	OMIM:613313
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Optic atrophy, Bruxism, Choreoathetosis, High palate, Dysphagia, Clinodactyly of the 5th ...	OMIM:619422
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy...	ORPHA:273
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Sple...	ORPHA:290
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Woods Syndrome	Ventricular septal defect, Supernumerary nipple, Broad nail, Hypoplastic fifth toenail, Frontal h...	OMIM:615236
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoa...	ORPHA:14
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Infantile Refsum Disease	Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentration, Cardiomyop...	ORPHA:772
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Ir...	ORPHA:457205
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Loss of ambulati...	ORPHA:157850
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Ventricular septal defect	OMIM:618504
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor...	ORPHA:2494
Peroxisome Biogenesis Disorder 8B	Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce...	OMIM:614877
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Stroke-like episode, Growth delay, Cardiom...	OMIM:222300
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Hyperconvex nail, Patent ductus arteriosus, Flexion contracture, Inter...	OMIM:613870
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Truncal ataxia, ...	OMIM:258450
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus	OMIM:218350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C...	ORPHA:3077
Serkal Syndrome	Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni...	ORPHA:139466
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,...	ORPHA:439232
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment...	ORPHA:177910
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Bradycardia, Absent...	ORPHA:226313
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos...	ORPHA:785
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Leukopenia, Hypoalbumi...	ORPHA:99826
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Prune Belly Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Decreased fertility, Aplasia...	ORPHA:2970
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Shawl scrotum	ORPHA:2256
Squalene Synthase Deficiency	Optic nerve hypoplasia, Increased circulating farnesol concentration, Micrognathia, Decreased LDL...	OMIM:618156
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gastrointes...	ORPHA:90051
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Decreased fertility, Calf muscle hypertrophy,...	OMIM:313200
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Noonan Syndrome 10	Curly hair, Ventricular septal defect, Short stature, Sparse eyebrow, Cryptorchidism, Patent duct...	OMIM:616564
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic he...	ORPHA:3097
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokine...	ORPHA:254881
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Com...	OMIM:261600
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Hypospadias, Ventricular septal defect, Parachute mitral valve, Highly arched eyebrow, Cryptorchi...	OMIM:618316
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Potocki-Lupski Syndrome	Hyperactivity, Micrognathia, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Hyp...	OMIM:610883
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Arthritis	OMIM:611762
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Fine...	ORPHA:217346
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no...	ORPHA:543
Noonan Syndrome 2	Curly hair, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short st...	OMIM:605275
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
L-2-Hydroxyglutaric Aciduria	L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia	OMIM:236792
Behr Syndrome	Ataxia, Achilles tendon contracture, Unsteady gait, Optic atrophy, Truncal ataxia, Hypoplastic op...	OMIM:210000
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Hypertension, Abnormality of macula...	ORPHA:97229
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal...	OMIM:620210
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Facial palsy, Generalized osteosclerosis, Optic atrophy, Genu valg...	ORPHA:53
Costello Syndrome	Deep-set nails, Generalized hyperpigmentation, Ventricular septal defect, Short stature, Abnormal...	ORPHA:3071
Stankiewicz-Isidor Syndrome	Hypospadias, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Patent ductus arterio...	OMIM:617516
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Ventricular septal defect, Short stature, Abnormality of the endocrine ...	ORPHA:166035
Proximal Spinal Muscular Atrophy	Inability to walk, Hip dislocation, Absent patellar reflexes, Knee flexion contracture, Facial di...	ORPHA:70
Mitochondrial Complex I Deficiency, Nuclear Type 19	Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Loss of ambulation, ...	OMIM:618241
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Adrenal insufficiency, Adrenocorticotropic hormo...	OMIM:609981
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance	ORPHA:3151
Desbuquois Syndrome	Severe short stature, Ventricular septal defect, Camptodactyly of finger, Abnormal eyelash morpho...	ORPHA:1425
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Hypoplastic toenails, Cryptorchidism, Patent ductus arteriosus, Umbili...	OMIM:612938
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Increased fecal coproporphyrin 3, Ankle flexion contracture, Abnormal...	ORPHA:100924
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Atrial septal defect	OMIM:618067
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation...	ORPHA:79264
Muckle-Wells Syndrome	Leukocytosis, Conjunctival hyperemia, Polyarticular arthritis, Conjunctivitis	OMIM:191900
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Cryptorchidism, Patent d...	ORPHA:329224
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Short stature, Cryptorchidism, Low anterior hairline, Abnormal heart m...	ORPHA:369891
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati...	ORPHA:180229
Obesity And Hypopigmentation	Red hair	OMIM:620195
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Chromosome 1P36 Deletion Syndrome, Proximal	Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal ...	OMIM:619343
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Ambiguo...	ORPHA:452
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, ...	OMIM:616777
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani...	OMIM:616959
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Camptodactyly, Atrial septal defect	OMIM:301039
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Ventricular septal defect, Sparse eyelashes, Concave nail, Abnormality of hair text...	OMIM:234050
Acrocardiofacial Syndrome	Hypoplasia of penis, Hyperthyroidism, Hypospadias, Mitral stenosis, Ventricular septal defect, Ca...	ORPHA:2008
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te...	ORPHA:481
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Impulsivity, Aggressive...	OMIM:261990
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Low...	OMIM:244300
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Gastroesophageal reflux, Bradycardia	OMIM:619814
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Hypospadias, Short stature, Sparse eyebrow, Cryptorchidism, Synophrys, Pat...	ORPHA:3063
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Decreased response to growth hormone stimulation ...	OMIM:618624
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Juvenile rheumatoid arthritis, Abnormal natu...	ORPHA:158061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Lethargy, Anemia	ORPHA:289916
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect, Nail dysplasia	OMIM:619142
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro...	ORPHA:248111
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Proximal Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Cardiomyopathy, Difficulty walking, Mildly e...	ORPHA:401768
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Short stature, Highly arched eyebrow, Cryptorchidism, Flexion contract...	OMIM:617452
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Short stature, Highly arched eyebrow, Widow's peak, Hydrocele testis, ...	OMIM:145420
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Highly arched eyebrow	OMIM:616898
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Abetalipoproteinemia	Abetalipoproteinemia, Ataxia, Acanthocytosis, Fat malabsorption, Retinopathy, Peripheral demyelin...	OMIM:200100
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Pes planus, Velopharyngeal insufficiency...	OMIM:182290
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Leukocytosis, Conjunctivitis	OMIM:120100
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Hypoplastic toenails, Dextrotransposition of the great arteries, Atrial septal defe...	OMIM:306955
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Elevated...	OMIM:615673
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d...	OMIM:617044
Suleiman-El-Hattab Syndrome	Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Synophrys, Atria...	OMIM:618950
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, High palate, Hyperalaninemia	OMIM:245349
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin conce...	ORPHA:48818
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept...	ORPHA:2516
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Postnatal growth retardation, Cryptorchidism,...	OMIM:300963
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Hypoplastic toenails, Ventricular septal defect, Highly arched eyebrow	ORPHA:94066
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar...	OMIM:606069
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I...	ORPHA:206484
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Pseudo-Torch Syndrome 2	Lethargy, Thrombocytopenia, Bradycardia, Cerebral hemorrhage	OMIM:617397
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Facial palsy, Aggressive behavior, Split hand, Optic atrophy, Dysphagia	OMIM:614707
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Bowing of the legs, Delayed epiph...	OMIM:600081
Ogden Syndrome	Torticollis, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Pulmonary a...	ORPHA:276432
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Hsd10 Disease, Infantile Type	Restlessness, Gastrointestinal dysmotility, Optic atrophy, Hyperammonemia, Choreoathetosis, Dysph...	ORPHA:391428
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype...	OMIM:603909
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte...	OMIM:204100
Cardiofaciocutaneous Syndrome 3	Curly hair, Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hy...	OMIM:615279
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:1067
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Joint hypermob...	OMIM:617052
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Unicoronal synostosis,...	OMIM:616300
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia	OMIM:612716
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Thrombocytosis, Anemia,...	OMIM:209950
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Widow's peak, Bicornuate uterus, Abno...	ORPHA:2143
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Highly arched eyebrow, Patent duct...	OMIM:617751
22Q11.2 Duplication Syndrome	Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E...	ORPHA:90044
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Marinesco-Sjögren Syndrome	Short palm, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fin...	ORPHA:559
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun...	OMIM:619752
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy, Ataxia	ORPHA:1186
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Coarctation of aorta, Persi...	OMIM:618494
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Restlessness, Broad hallux, Elevated circulating hexacosanoic acid concentrati...	OMIM:614388
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Spastic Paraplegia 2, X-Linked	Optic atrophy, Dysmetria, Loss of ambulation, Pes cavus, Spastic gait	OMIM:312920
Scimitar Syndrome	Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle,...	ORPHA:185
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Spastic Paraplegia Type 7	Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Pes cavus,...	ORPHA:99013
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Celiac disease, Optic atrophy, Genu valgum, Patellar subluxation, Depression	OMIM:248000
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir...	ORPHA:644
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Short thumb, Cleft palate, Persistence of hemoglobin F, Mitral r...	OMIM:612561
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Cardiac arrest, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysph...	OMIM:616878
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Hypogonadotropic hypogonadism, Ventricular septal defect, Short stature, Cr...	OMIM:617159
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa ...	ORPHA:168549
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Proportionate short stature, Abnormal coronary artery co...	ORPHA:488618
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Odynophagia, Leukocyto...	ORPHA:319213
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen...	ORPHA:2519
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Postnatal growth retardation, Cryptorchidism, Abnormal he...	ORPHA:494344
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Short Stature-Micrognathia Syndrome	Small scrotum, Ventricular septal defect, Short stature, Rhizomelia, Cryptorchidism, Skeletal mus...	OMIM:617164
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Leopard Syndrome 1	Scapular winging, Hypospadias, Short stature, Cryptorchidism, Complete atrioventricular canal def...	OMIM:151100
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Synophrys, Hepat...	OMIM:606003
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Short stature, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the u...	ORPHA:247768
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea...	OMIM:610198
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Aggressive behavior, Optic atrophy, 2-3 toe syndactyly, Narrow ...	ORPHA:313892
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Limb joint contracture, Ventricular septal defect, Short stature, Highly arched eyebrow, Cryptorc...	ORPHA:505237
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Increased bone mineral density, Femur fracture, Facial palsy, Craniosynostosis, Thr...	OMIM:259700
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Short sta...	OMIM:616651
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Retinal dystrophy, Intestinal malrotation, Hamartoma of tongue, Preaxial...	OMIM:263520
Leber Congenital Amaurosis 14	Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Narrow palate, Recurrent hand flap...	OMIM:615516
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Highly arched eyebrow	ORPHA:228399
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior	ORPHA:329284
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short stature, Cryptorc...	OMIM:614294
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hypophosph...	ORPHA:263455
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Ventricular septal defect, Hypospadias, Congenital diaphragmatic h...	OMIM:617602
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteri...	ORPHA:251071
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Absent pulmonar...	OMIM:600460
Spastic Paraplegia 5A, Autosomal Recessive	Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, Pes cavus, Spastic...	OMIM:270800
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Ventricular septal defect, Short stature	ORPHA:3369
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Ventricular septal defect, Short stature, Highly arched eyebrow, Secu...	OMIM:600987
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning, Ataxia	OMIM:618970
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Low anterior hairline...	ORPHA:363705
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Anemia, Abnormal cir...	OMIM:615838
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Short fourth metatarsal, Short metacarpal, Aggressive behavior, Short toe, Type E ...	OMIM:600430
Childhood-Onset Spasticity With Hyperglycinemia	Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Nonketotic hype...	ORPHA:401866
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Bowing of the legs, Subperiosteal...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Brachydactyly, Type B1	Ventricular septal defect, Anonychia, Camptodactyly, Micropenis, Joint contracture of the hand, H...	OMIM:113000
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Low anterior ...	OMIM:619909
Weill-Marchesani Syndrome	Aortic valve stenosis, Short stature, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Ventricular sep...	OMIM:300998
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Hypospadias, Ventricular septal defect, Short stature, Elevated circulating creatin...	OMIM:301056
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Rhizomelia, Ventricular septal defect	ORPHA:93267
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Steatorrhea, Fat malabsorption, Retino...	ORPHA:71
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ...	OMIM:620366
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Atelis Syndrome 1	Ventricular septal defect, Atrial septal defect, Irregular hyperpigmentation, Cafe-au-lait spot, ...	OMIM:620184
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal...	OMIM:613091
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Noonan Syndrome 4	Curly hair, Ventricular septal defect, Short stature, Sparse eyebrow, Cryptorchidism, Blue irides...	OMIM:610733
Alstrom Syndrome	Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti...	OMIM:203800
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati...	OMIM:617166
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Glucose intolerance, ...	OMIM:608612
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Hamamy Syndrome	Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Complete atrioventricular c...	OMIM:611174
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea, Hypocholesterolemia	OMIM:614338
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Iron...	ORPHA:97214
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Hypoplastic fingernail, Ventricular septal defect, Neonatal insulin-dependent diabe...	ORPHA:96191
Isolated Atp Synthase Deficiency	Ataxia, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, Arrhythmia, Hyperalaninemia, Hyper...	ORPHA:254913
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
19P13.12 Microdeletion Syndrome	Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Synophrys, Atrial sep...	ORPHA:254346
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida	ORPHA:2476
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Delayed proximal femoral epiphyseal ossification, Macroglossia, Hand poly...	ORPHA:226307
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Short stature	OMIM:314320
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins...	OMIM:126320
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Supernumerary nipple, Sparse eyelashes, Absent eyelashes,...	OMIM:106260
Linear Verrucous Nevus Syndrome	Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Retinopathy,...	ORPHA:2611
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Emotional lability, Progressive gait ataxia, Optic atrophy, Progressive cerebellar ataxia	ORPHA:254343
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	ORPHA:77298
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Hypospadias, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minora, Synophrys, ...	ORPHA:495875
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Short stature, Double outlet right ventricle, Coar...	ORPHA:3426
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Att...	ORPHA:216866
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an...	OMIM:618280
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono...	OMIM:610743
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Alopecia, Ventricular septal defect, Cryptorchidism, Subvalvular aortic...	OMIM:613001
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Short stature, Abnormal hair whorl, Small nail, Atrial septal defect, ...	OMIM:614261
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal optic nerve morph...	ORPHA:3226
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Meningococcal Meningitis	Shock, Papilledema, Elevated circulating C-reactive protein concentration, Anorexia, Irritability...	ORPHA:33475
Trisomy 13	Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:3378
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:614298
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Optic atrophy, Absent Achilles reflex, Cardiomyopath...	ORPHA:1215
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub...	OMIM:308750
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Bowing of the legs, Subperiosteal...	OMIM:277440
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Sparse lateral eyebrow	OMIM:617616
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Camptodactyly, Atrioventricular can...	OMIM:619123
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Th...	OMIM:259720
Spastic Paraplegia 7, Autosomal Recessive	Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag...	OMIM:607259
Emanuel Syndrome	Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Cryp...	OMIM:609029
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Bowing of the legs, Abnormal circ...	OMIM:241530
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Hyperpigmentation of the skin, Inc...	OMIM:202010
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Precocious puberty, Growth delay, Intrauter...	ORPHA:447980
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Short stature, Abnormal hair pattern, Polycystic ovaries, Gonadal dysg...	ORPHA:1770
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Micrognat...	OMIM:617913
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Flexion con...	OMIM:609033
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Pancreatic...	ORPHA:1655
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Low posterior hairline	ORPHA:2345
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Cerebrotendinous Xanthomatosis	Optic disc pallor, Angina pectoris, Ataxia, Myocardial infarction, Osteoporosis, Ankle clonus, Xa...	OMIM:213700
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Optic atrophy, Gait disturbance, Emotional lability, Lethargy	OMIM:603896
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Ventricular septal defect, Endometriosis, Patent ductus arterios...	OMIM:613680
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Recombinant 8 Syndrome	Small scrotum, Ventricular septal defect, Camptodactyly of finger, Abnormal hair morphology, Cryp...	ORPHA:96167
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Small nail	OMIM:263630
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Overlapping toe, Tapered finger, Optic atrophy, Gait ataxia, Hip dysplasia, Bil...	OMIM:617807
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Postnatal growth retardation, Large placenta, Abnorma...	ORPHA:254534
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Central diaphragmatic hernia, Sm...	OMIM:617450
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Insulin-Like Growth Factor I, Resistance To	Sparse scalp hair, Diabetes mellitus, Ventricular septal defect, Short stature, Severe short stat...	OMIM:270450
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking...	ORPHA:280234
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Acholic stools, Steatorrhea, Fat malabsorpt...	OMIM:607765
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Impaired glucose tolerance, Joint stiffness, Insulin-resistant diabetes mellitus, Fle...	OMIM:248370
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Spinocerebellar Ataxia Type 1	Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait d...	ORPHA:98755
Chops Syndrome	Curly hair, Ventricular septal defect, Short stature, Thick hair, Splenomegaly, Cryptorchidism, P...	OMIM:616368
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Pulmonary art...	OMIM:611812
3C Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal mitral valve morphology, Ad...	ORPHA:7
Joubert Syndrome 18	Occipital encephalocele, Intrauterine growth retardation, Ventricular septal defect, Camptodactyly	OMIM:614815
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, B lymphocytopenia, Optic neuritis, Neutropenia	OMIM:301081
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal ...	ORPHA:3138
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Growth delay,...	ORPHA:457193
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Hepatob...	ORPHA:96334
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Increased bone mineral density, Facial palsy, Splenomegaly, O...	OMIM:611490
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Esophageal diverticulum, Preaxial polyd...	OMIM:617925
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin co...	ORPHA:90363
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Short stature, Abnormal fingernail morphology, Situs in...	ORPHA:1908
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus...	OMIM:300946
Congenital Generalized Lipodystrophy	Diabetes mellitus, Precocious puberty in females, Insulin resistance, Bone cyst, Hyperinsulinemia	ORPHA:528
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Mandibuloacral Dysplasia	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Contractures of the la...	ORPHA:2457
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co...	ORPHA:2876
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Coarctation ...	OMIM:300514
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Short stature, Cryptorchidism, Interrupted aortic ...	OMIM:192430
Leber Optic Atrophy	Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ...	OMIM:535000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania...	ORPHA:449285
Keutel Syndrome	Alopecia, Pulmonary artery stenosis, Ventricular septal defect, Short stature	ORPHA:85202
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Cranial ...	OMIM:259710
Trisomy 1Q	Small scrotum, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic herni...	ORPHA:261344
Ellis Van Creveld Syndrome	Abnormal hair quantity, Hypospadias, Ventricular septal defect, Dextrocardia, Abnormal heart valv...	ORPHA:289
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Generalized h...	ORPHA:2221
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Low posterior hairline	OMIM:214300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me...	OMIM:185000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hypertension, High palate, Bradycardia, Talipes equinovarus, Gas...	OMIM:614653
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital...	ORPHA:96181
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lym...	OMIM:235255
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Hypospadias, Ventricular septal defect, Postnatal growth retard...	ORPHA:1465
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:614114
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Hyperactivity, Short metacarpal, Pes planus, Aggressive behavior, ...	OMIM:123450
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Polycystic ovaries, Mitral...	ORPHA:371428
Braddock-Carey Syndrome 1	Curly hair, Aortic valve prolapse, Ventricular septal defect, Growth delay, Camptodactyly, Sparse...	OMIM:619980
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort...	ORPHA:1328
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Metaphyseal widening, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, I...	OMIM:618476
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gastroesophageal reflux, Gait disturbance, D...	ORPHA:225154
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Facial hypotonia, Ventricular septal defect, Short stature, Dispropo...	ORPHA:85194
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gastroesophageal reflux, Attention deficit hyp...	ORPHA:442835
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Dextrotransposition of t...	OMIM:618619
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Polyarticular arthritis	OMIM:614204
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka...	OMIM:174900
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect, Precocious puberty, Cryptorchidism, Labial hypoplasia, Micropenis, Hir...	OMIM:620073
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, High palate, Bradycardia	OMIM:619272
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity, Pes cavus	ORPHA:99014
Chromosome 18Q Deletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Absence of the pulmonary valv...	OMIM:601808
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ...	OMIM:617022
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of...	ORPHA:363417
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Alg8-Cdg	Hyponatremia, Abnormality of the gastrointestinal tract, Ataxia, Thrombocytopenia, Optic atrophy,...	ORPHA:79325
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Micrognathia, Optic atrophy, Hip dysplasia, Abnormal temper tantrums, Abno...	ORPHA:530983
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Dilated cardiomyopathy, Mitral...	ORPHA:261250
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias, Short stature	OMIM:612528
Meier-Gorlin Syndrome 7	Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Complete atrioventricular ...	OMIM:617063
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Alg12-Cdg	Hyponatremia, Retinal detachment, Sandal gap, Intestinal malrotation, Proximal placement of thumb...	ORPHA:79324
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia	ORPHA:363400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Arthritis, Lymphocytosis, Thrombocytosis, Reduced natur...	OMIM:301074
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Warsaw Breakage Syndrome	Ventricular septal defect, Hypermelanotic macule, Postnatal growth retardation, Intrauterine grow...	OMIM:613398
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L...	ORPHA:198
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,...	ORPHA:90291
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Ataxia, Aggressive behavior, Optic atrophy, Dysmetria, Cardiomyopathy, At...	OMIM:617710
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Cleft palate, Abnormal pelvic g...	ORPHA:1988
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short stature, Cryptorch...	OMIM:130720
Down Syndrome	Ventricular septal defect, Short stature, Brushfield spots, Complete atrioventricular canal defec...	OMIM:190685
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Villous atrophy, Ataxia, Steatorrhea, Dysmetria, Cardiomyopathy, Hypoal...	OMIM:212065
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Abnormal...	ORPHA:404440
Emanuel Syndrome	Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma...	ORPHA:96170
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Coarse hair, Sparse hair, Atrial septal defect, Patent foramen ovale, Short stature, Highly arche...	OMIM:617506
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Thromb...	ORPHA:64743
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Pgm3-Cdg	Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor...	ORPHA:443811
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia	OMIM:601163
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia, Anemia	ORPHA:230
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Normochromic anemia,...	ORPHA:91355
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Pes planus, Optic disc pallor, Broad-based gait, Dysmetria, Progressi...	ORPHA:363429
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:245552
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S...	ORPHA:289157
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Maternal diabetes, Large placenta, Patent ductus arterios...	ORPHA:1708
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Neutropenia, Hyperammonemia, Irritability, Dysphagia, Loss of ambulation	OMIM:618253
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Osteopenia, Ataxia, Depression, Hepatosple...	ORPHA:309288
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ataxia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Ventricular septal d...	ORPHA:84064
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Coronary arte...	OMIM:620024
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula...	OMIM:615474
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Sparse eyelashes, Ventricular septal defect, Short stature, Hypoplastic toenai...	OMIM:616901
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Pheochromoc...	OMIM:160980
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Ataxia, Aggressive behavior, Micrognathia, Coxa valga, Optic atrophy, Self-in...	OMIM:619833
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Adams-Oliver Syndrome 6	Hypoplastic toenails, Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Macroglossia, ...	OMIM:615668
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri...	OMIM:611134
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Delayed puberty, Atrial septal defect, I...	ORPHA:52
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Absent outer dynein arms, Ventricular septal defect, Dextrocardia	OMIM:616037
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Micrognathia, Dysmetria, Depression, Pigmentary retinopathy, Progressive cereb...	ORPHA:502423
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ca...	ORPHA:99776
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Infantile Neuroaxonal Dystrophy	Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G...	ORPHA:35069
3-Methylglutaconic Aciduria, Type I	Athetosis, Optic atrophy, Self-mutilation, Ataxia	OMIM:250950
Idiopathic Intracranial Hypertension	Papilledema, Abnormal emotion, Lethargy, Depression	ORPHA:238624
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Mckusick-Kaufman Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrometrocol...	ORPHA:2473
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Thick eyebrow, Ventricular septal defect, Bicuspid aortic valve, Shor...	OMIM:610759
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Short stat...	OMIM:614921
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Ataxia, Tapered finger, Inability to walk, Optic atrophy, Dysmetria, Rig...	OMIM:619576
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Spinocerebellar Ataxia, Autosomal Recessive 18	Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia	OMIM:616204
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Supernumerary nipple, ...	OMIM:612530
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, Esophageal vari...	ORPHA:309854
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Gastroesophageal r...	OMIM:618249
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Bulimia, Optic atrophy, Mitral regurgitation, Pulmonary arterial hypertension	OMIM:614651
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Hyperbilirubinemia, Lethargy	OMIM:218700
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Hypospadias, Short stature, Cryptorchidism, Aplasia/Hypo...	ORPHA:96097
Carpenter Syndrome 1	Ventricular septal defect, External genital hypoplasia, Short stature, Precocious puberty, Crypto...	OMIM:201000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Thyro...	OMIM:235510
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Lead Poisoning	Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Decreased circ...	ORPHA:330015
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Ataxia, Repetitive compulsive behavior, Dilated cardiomyopathy, Optic atro...	ORPHA:66634
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Splenomegaly, Ocular albinism, Hepatosplenomegaly, Enlarged plate...	OMIM:608233
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroi...	ORPHA:39041
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Micropenis, Intrauteri...	OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect, Flexion contracture, Ascending tubular aorta ane...	OMIM:309520
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Ventricular septal defect, Short stature, Postnatal growth retarda...	OMIM:620113
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Irritability, Optic disc pallor, Ataxia	OMIM:615281
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Abnormality of hair texture, Cry...	OMIM:610443
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth retar...	OMIM:615583
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricusp...	OMIM:600001
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Gastroesophageal reflux, Bradycardia	OMIM:608800
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplast...	OMIM:618748
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Atri...	OMIM:603387
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Neutropenia, Osteoporosis, Cleft palate, Increased me...	OMIM:612562
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Myotonic Dystrophy 1	Frontal balding, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Diabetes insipidus, Macular coloboma, Aplasia/Hypoplasia of...	ORPHA:423479
Arts Syndrome	Optic atrophy, Ataxia, Dysphagia	OMIM:301835
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Autosomal Dominant Hypocalcemia	Congestive heart failure, Optic atrophy, Depression, Reduced bone mineral density, Hyperphosphate...	ORPHA:428
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrin...	ORPHA:391487
Cerebellofaciodental Syndrome	Ventricular septal defect, Short stature, Sparse eyebrow, Cryptorchidism, Mitral valve prolapse, ...	OMIM:616202
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Decreased serum iron, Esophageal stricture, Dilated cardiomyop...	ORPHA:89842
Cohen Syndrome	Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Thick hair, Abnorm...	ORPHA:193
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu...	OMIM:171420
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Synophrys, Long eyelashes, Arthrogryposis multiplex congenita, Patent ...	OMIM:614961
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atrop...	OMIM:251900
Friedreich Ataxia	Decreased motor nerve conduction velocity, Abnormal foot morphology, Inability to walk, Optic atr...	ORPHA:95
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:609053
Kleefstra Syndrome	Hypoplasia of penis, Hypospadias, Bicuspid aortic valve, Supernumerary nipple, Ventricular septal...	ORPHA:261494
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Ataxia, Abnormal circulating creatine concentration, Ileus,...	ORPHA:52503
Encephalitis Lethargica	Lethargy, Bradycardia	ORPHA:83600
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Triple A Syndrome	Plantar hyperkeratosis, Ataxia, Optic atrophy, Abnormality of the calf musculature, Palmoplantar ...	ORPHA:869
Gm1-Gangliosidosis, Type Ii	Ataxia, Coxa valga, Protruding tongue, Splenomegaly, Optic atrophy, Hypoplastic vertebral bodies,...	OMIM:230600
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Bohring-Opitz Syndrome	Retinal atrophy, Micrognathia, Inability to walk, Optic atrophy, Cleft palate, Bradycardia, Metac...	ORPHA:97297
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:300472
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Mitral stenosis, Hypospadias, Ventricular septal defect, Cryptorchidism, P...	ORPHA:163956
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic labia major...	ORPHA:2328
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Short stature, Postnatal growth retardation, Cr...	ORPHA:2962
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cryptorchidism, Blue irides, Red hair, Fair hair	OMIM:614613
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Re...	ORPHA:79474
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Ventricula...	ORPHA:444072
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Bowing of the legs,...	OMIM:300554
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Proportionat...	OMIM:613457
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Hypospadias, Cryptorchidism, Dysplastic pulmonary valve, Sparse latera...	OMIM:619103
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Joint swelling	OMIM:617099
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles	OMIM:619132
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Optic disc pallor, Ataxia, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, F...	OMIM:300232
Coffin-Siris Syndrome 7	Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Short stature, Hypoplastic f...	OMIM:618027
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Short stature, Thoracic aortic aneurysm, Patent ductus a...	OMIM:619657
Adult-Onset Still Disease	Neutrophilia, Splenomegaly, Leukocytosis, Arthritis, Joint swelling, Bone marrow hypocellularity	ORPHA:829
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept...	ORPHA:1335
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Optic nerve hypoplasia, Abnormal T cell subset distribution, Arthritis, B lymphocytop...	ORPHA:221139
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Short stature, Hypomimic face	OMIM:608572
Friedreich Ataxia	Abnormal EKG, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Gait ataxia, Areflexi...	OMIM:229300
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Metaphyseal widening, Inability to walk, Optic atrophy, Clubbing, Throm...	OMIM:617303
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro...	ORPHA:352540
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Attention deficit hyperactivity disorder, Abnormal stomach morphology	ORPHA:281090
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointest...	OMIM:270400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope...	OMIM:616084
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab...	ORPHA:760
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,...	ORPHA:368
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification...	OMIM:260400
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Ataxia, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysphagia, Tem...	ORPHA:98673
Zellweger Syndrome	Hepatomegaly, Ventricular septal defect, Hypospadias, Short stature, Brushfield spots, Cryptorchi...	ORPHA:912
Ataxia-Telangiectasia	Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Multiple cafe-au-lait sp...	ORPHA:100
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Proportionate short stature	OMIM:609654
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Ventricular septal defect, Congenital diaphragmatic...	ORPHA:2745
Gm1 Gangliosidosis	Gastroesophageal reflux, Cherry red spot of the macula, Ataxia, Retinopathy of prematurity, Hepat...	ORPHA:354
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Nephrogenic diabetes insipidus, Arthrogryposis multiplex...	OMIM:613404
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re...	OMIM:146510
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, Motor axonal neuropathy	ORPHA:289560
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow...	ORPHA:293978
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S...	OMIM:192445
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Elevated circulating creatine kinase concentration, Bulimia, 2-3 toe syndactyl...	ORPHA:314389
Cooper-Jabs Syndrome	Short stature, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic herni...	ORPHA:1488
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Abnormal foot morphology, Optic atro...	OMIM:234200
Tetraamelia Syndrome 2	Micropenis, Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Short stature, Dextrotransposition of the great...	OMIM:619995
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocel...	ORPHA:508542
Trichohepatoenteric Syndrome 1	Hepatomegaly, Curly hair, Brittle hair, Ventricular septal defect, Hypospadias, Short stature, Sp...	OMIM:222470
Cholera	Hyponatremia, Tachycardia, Achlorhydria, Abnormal blood ion concentration, Irritability, Hypovole...	ORPHA:173
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th...	ORPHA:124
Muscle-Eye-Brain Disease	Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance	ORPHA:588
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sple...	OMIM:614576
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Aplasia/Hypoplasia...	ORPHA:2255
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia	OMIM:618233
Prader-Willi Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:176270
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Dilated cardiomyopathy, Optic atrophy, Hyperglycinemia, Lethargy, Hypertrophic cardiomyop...	OMIM:614299
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Inability to walk, Optic atrophy, Absent Achilles reflex, Ankle clonus, Motor ...	OMIM:609541
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Abnormal femu...	ORPHA:324
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depress...	OMIM:619259
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Pelger-Huet Anomaly	Ventricular septal defect, Lower limb hypertonia, Umbilical hernia, Mild short stature, Foot dors...	OMIM:169400
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v...	OMIM:127550
Yellow Fever	Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	ORPHA:99829
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia...	ORPHA:239
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Increased bone mineral density, Retinal calcification, H...	OMIM:127000
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Retinopathy, Increased red cell...	OMIM:603903
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, P...	ORPHA:210122
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora...	ORPHA:254930
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus,...	OMIM:608149
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Ventricular septal defect, Short stature, Cryptorchidism, Loose an...	OMIM:607721
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c...	OMIM:250790
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Short stature, Cryptorchidism, Patent...	OMIM:300712
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus	ORPHA:676
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thum...	OMIM:105650
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Optic atrophy, Short metatarsa...	OMIM:605282
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, Hyper...	OMIM:269700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Cryptorchidism, Growth delay, Frontal upsweep of hair, Micropenis	OMIM:617798
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Radio-Tartaglia Syndrome	Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Precocious pubert...	OMIM:619312
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Optic atrophy, Osteolysis, Hypertensi...	ORPHA:1764
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugat...	OMIM:613280
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, ...	OMIM:617061
Kury-Isidor Syndrome	Growth delay, Alopecia, Ventricular septal defect, Hypertrichosis	OMIM:619762
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ...	OMIM:157640
Carpenter Syndrome	Craniosynostosis, Abnormal cornea morphology, Polysplenia, Genu valgum	ORPHA:65759
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple	ORPHA:46627
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Optic atrophy, Talipes calcaneovalgus, Dysmetria, Gait ataxia, Bradyk...	OMIM:610217
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po...	OMIM:246200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Thro...	OMIM:612199
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Birk-Landau-Perez Syndrome	Hyperkalemia, Optic atrophy, Limb ataxia, Choreoathetosis, Hypertension, Difficulty walking, Incr...	OMIM:617595
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Flexion...	OMIM:227645
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Flexion contracture, Ventricular septal defect	ORPHA:79243
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Chromosome 9P Deletion Syndrome	Narrow nail, Ventricular septal defect, Hypospadias, Highly arched eyebrow, Hyperconvex nail, Pat...	OMIM:158170
Pagod Syndrome	Encephalocele, Short stature, Congenital diaphragmatic hernia, Spina bifida, Situs inversus total...	ORPHA:991
Spinocerebellar Ataxia Type 13	Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Difficulty walking, Dys...	ORPHA:98768
Bile Acid Synthesis Defect, Congenital, 5	Portal hypertension, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity,...	OMIM:616278
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Micrognathia, Hypocholesterolemia	OMIM:618810
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Bone Marrow Failure Syndrome 5	Short stature, Reticular hyperpigmentation, Growth delay, Hypogonadism, Nail dystrophy, Testicula...	OMIM:618165
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Inability to walk, Optic atrophy, Ankle clonus, Shuffling ga...	ORPHA:52368
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Cryptorchidism, Aort...	OMIM:620025
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Neonatal death, Atrial septal defect, Atrioventric...	OMIM:265380
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous colonic polyposis, Colorect...	ORPHA:157798
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia	OMIM:300755
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Macr...	ORPHA:453499
Distal Deletion 19P	Alopecia, Vaginal hernia, Ventricular septal defect, Tricuspid valve prolapse, Umbilical hernia, ...	ORPHA:96129
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys...	OMIM:598500
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial sept...	OMIM:618870
C Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus,...	OMIM:211750
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Ataxia, Protruding tongue, Optic atrophy, Dysmetria, Telan...	ORPHA:93400
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 7	Ataxia, Optic atrophy, Paralytic ileus, Facial diplegia, Dysphagia, Facial paralysis	OMIM:613559
Tatton-Brown-Rahman Syndrome	Ventricular septal defect, Horizontal eyebrow, Atrial septal defect, Umbilical hernia, Thick eyebrow	OMIM:615879
Sotos Syndrome	Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Muscular ventricular septal defect, Pa...	OMIM:117550
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le...	ORPHA:99867
Noonan Syndrome 3	Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Mitral valve ...	OMIM:609942
Angelman Syndrome	Abnormality of the gastrointestinal tract, Optic disc pallor, Hyperactivity, Broad-based gait, At...	ORPHA:72
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones	ORPHA:2307
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Ankle swelling, Retinal pigment epithelial mottling, Chor...	ORPHA:448237
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles	OMIM:608907
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotes...	OMIM:309801
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Abnormal optic chiasm morp...	ORPHA:300373
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Cryptorchidism, Atrial septal ...	ORPHA:261236
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Growth delay, Interrupted aortic arch, Limb h...	OMIM:616920
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Myocard...	ORPHA:447
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Alg6-Cdg	Puberty and gonadal disorders, Macroglossia, Hypoalbuminemia, Increased circulating androgen conc...	ORPHA:79320
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Dysmetri...	OMIM:612674
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Delayed cranial suture closure, Craniosynos...	OMIM:620005
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Right ventricular ...	OMIM:601214
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Esophageal stricture, Dilated cardiomyopathy, Osteoporosis, Abnorm...	ORPHA:79404
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Nephrogenic diabetes insipidus, Atrial septal defect, Arthrogryposis m...	OMIM:208085
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Ataxia, ...	ORPHA:31826
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Hypoplastic toenails, Patent ductus arteriosus, Low anterior hairline,...	OMIM:220500
Spastic Paraplegia Type 2	Optic atrophy, Spastic gait, Ataxia, Pulmonary embolism	ORPHA:99015
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Portal hypertension, Optic atrophy, Chorioretinal atrophy, Osteop...	OMIM:619487
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Ventricular septal defect, Short stature, Highly arched eyebrow, Low posterior hairli...	OMIM:617360
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia	OMIM:616730
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Hepatomegaly, Ventricular septal defect, Short stature	OMIM:615630
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Opitz Gbbb Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Widow's peak, Growth delay, Umbilical her...	OMIM:300000
Lateral Meningocele Syndrome	Ventricular septal defect, Cryptorchidism, Meningocele, Low posterior hairline, Umbilical hernia	ORPHA:2789
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Anterior encephalocele	OMIM:601357
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Rectovaginal fistula, Transposition o...	ORPHA:1780
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus ...	OMIM:616894
Bohring-Opitz Syndrome	Ventricular septal defect, Short stature, Supernumerary nipple, Mesomelic/rhizomelic limb shorten...	OMIM:605039
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Micrognathia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Cardiomyopathy, High p...	OMIM:620089
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Diets-Jongmans Syndrome	Ventricular septal defect, Short stature, Hypospadias, Congenital diaphragmatic hernia, Cryptorch...	OMIM:618846
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co...	OMIM:610377
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Ventricular septal defect, Short stature, Supernumerary nipple, Congenital diaphra...	OMIM:618454
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pigmentary retinopathy, Frontal upsweep of h...	OMIM:612582
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperinsuli...	OMIM:608594
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Short stature	ORPHA:261190
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ...	ORPHA:457279
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Dy...	OMIM:617282
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Pes planus, Hyperactivity, Aggressive behavior, Depression, Hypertension, Irritability, Self-inju...	ORPHA:449291
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Dietary Iron Overload Disease	Hepatocellular carcinoma, Congestive heart failure, Elevated transferrin saturation, Increased ci...	ORPHA:139507
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Re...	OMIM:259900
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Mosaic Trisomy 20	Ventricular septal defect, Cryptorchidism, Dysplastic tricuspid valve, Depigmentation/hyperpigmen...	ORPHA:1724
Walker-Warburg Syndrome	Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Submucous cleft hard palate, Opti...	ORPHA:899
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Ventricular septal def...	ORPHA:209905
X Small Rings	Premature ovarian insufficiency, Ventricular septal defect, Bicuspid aortic valve, Primary amenor...	ORPHA:96201
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperpigmentati...	ORPHA:90790
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ambiguous genitalia, Ventricular septal defect	OMIM:617895
Joubert Syndrome 1	Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Protruding tong...	OMIM:213300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein concentration,...	OMIM:615688
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve...	ORPHA:1187
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Severe X-Linked Intellectual Disability, Gustavson Type	Severe postnatal growth retardation, Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Severe short stature, Ventricular septal defect, Camptodactyly of finger, Thy...	ORPHA:3047
Hydrolethalus Syndrome 1	Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Ane...	OMIM:236680
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hypopigmentation of hair, Cafe-au-lait spot, Hypo...	OMIM:618541
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Joint hypermobility	OMIM:617101
Dubowitz Syndrome	Syndactyly, Hyperactivity, Pes planus, Aplastic anemia, Micrognathia, Velopharyngeal insufficienc...	OMIM:223370
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al...	OMIM:203300
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul...	OMIM:610978
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Le...	ORPHA:79282
X-Linked Cerebral Adrenoleukodystrophy	Peripheral axonal neuropathy, Decreased circulating cortisol level, Hyperactivity, Ataxia, Abnorm...	ORPHA:139396
Acrootoocular Syndrome	Short metacarpal, Sandal gap, Abnormal finger flexion crease, Micrognathia, High, narrow palate, ...	ORPHA:2980
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Unicameral bone cyst	ORPHA:79086
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Patent...	ORPHA:163979
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Hypoplastic toenails, Cryptorc...	ORPHA:251014
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Multiple joint contractures, Ventricular septal defec...	ORPHA:33364
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect, External genital hypoplasia, Postnatal growth retardation, Cryptorchid...	ORPHA:251028
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors...	ORPHA:2388
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Thick eyebrow, Hyperthyroidism, Ventricular septal defect, Decreased res...	ORPHA:488632
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radius, Optic atrophy,...	OMIM:311900
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Retinal calcification, Cortical ...	ORPHA:93325
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Optic disc pallor, Normocytic anemia, Cardiac arrest, Rocker bottom foot, Micro...	OMIM:618947
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Arachnodact...	ORPHA:394
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Reticulated skin pigmentation, Testicular atrophy, Nail dystrophy	OMIM:613987
Metachromatic Leukodystrophy	Ataxia, Abnormal stomach morphology, Decreased nerve conduction velocity, Tip-toe gait, Gait dist...	ORPHA:512
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Club-shaped distal femur, ...	OMIM:218400
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Cafe-au-lait spot, Ventricular septal defect	OMIM:610832
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced bone mineral density, Loss of ambulation, Retinal degeneration, H...	ORPHA:581
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Coffin-Siris Syndrome 4	Sparse scalp hair, Ventricular septal defect, Mitral atresia, Short stature, Patent ductus arteri...	OMIM:614609
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Intracrania...	ORPHA:447788
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cryptorc...	OMIM:616145
Trisomy 18	Abnormality of retinal pigmentation, Ventricular septal defect, Camptodactyly of finger, Congenit...	ORPHA:3380
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Growth dela...	OMIM:301040
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Flexion cont...	OMIM:147791
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Hyperinsulinemic hypoglyce...	ORPHA:2968
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Cryptorchidism, Patent ductus art...	OMIM:139210
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Pes cavus, Neonatal hyperbilirubinemia, Hiatus hernia	OMIM:609727
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Inability to walk, Optic atrophy,...	ORPHA:845
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations	OMIM:188580
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, Hyperinsulinemic hypogly...	ORPHA:71212
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Synophrys	ORPHA:476126
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Short stature	OMIM:618325
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus, Widow...	ORPHA:1519
Hand-Foot-Genital Syndrome	Ventricular septal defect, Hypospadias, Bicornuate uterus, Abnormality of the uterus, Hypoplastic...	ORPHA:2438
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Short stature, Sparse eyelashes, Sparse eyebrow, Small nail, Sparse ha...	OMIM:250410
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplastic ...	ORPHA:1692
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Reduced bone mineral density, Axonal loss, Shoulder dislocation, Hypo...	ORPHA:404454
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Infancy onset short-trunk short stature, Truncus art...	ORPHA:508488
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Oculodentodigital Dysplasia	Micrognathia, Clinodactyly, Clinodactyly of the 5th finger, Finger syndactyly, Ataxia, Short hall...	ORPHA:2710
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Conjugated hyperbilirubinemia, High palate, Lethargy, Tricuspid regurgitation, Hepa...	OMIM:614866
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Congenital hip dislocation, Intestinal malrotation, Micrognathia, Metatarsus a...	OMIM:244450
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Conjunctivitis, Absent circulating B cells...	OMIM:307200
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Micro...	ORPHA:2538
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Giant Cell Arteritis	Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Optic atrophy, Depre...	ORPHA:397
Codas Syndrome	Ventricular septal defect, Short stature	ORPHA:1458
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Sparse hair, Atrial septal defect, Clitoral hypertrophy	OMIM:616449
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Ventricular septal def...	OMIM:206900
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Bicornuate uterus, Umbilical hernia, ...	OMIM:222448
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Highly arched eyebrow, Meningocele, Growth delay, Intra...	OMIM:614424
Orofaciodigital Syndrome V	Ventricular septal defect, Tetralogy of Fallot, Unilateral cryptorchidism	OMIM:174300
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Micrognathia, Optic atrophy, Dysmetria, Knee flexion contracture, Inflammation of the lar...	OMIM:619708
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo...	ORPHA:3205
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot...	ORPHA:79155
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Arthritis, Rod-c...	OMIM:260920
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ...	OMIM:100300
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Ataxia, Elevated circulating creatine kinase concentration, Micrognat...	ORPHA:496641
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short stature	ORPHA:52055
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, T lymphocytopen...	OMIM:619381
Generalized Pustular Psoriasis	Arthritis, Leukocytosis, Lymphopenia	ORPHA:247353
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Micrognathia, Microcytic anemia, Genu valgum, Abnormal optic disc ...	ORPHA:293967
7Q11.23 Microduplication Syndrome	Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Short stature, Cryptorch...	ORPHA:96121
Larsen Syndrome	Ventricular septal defect, Short stature, Short nail, Cryptorchidism, Atrial septal defect, Intra...	OMIM:150250
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Sparse scalp hair, Absent eyebrow, Hypospadias, Short stature, Alopecia, S...	OMIM:264090
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu...	ORPHA:505248
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Short stature	OMIM:618348
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Peroneal muscle weakness, Optic neu...	ORPHA:101076
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Alopecia, Ventricular septal defect, Abnormal pulmonary valve morphology, Ca...	ORPHA:1507
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent ou...	OMIM:615067
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Optic atrophy, Hypocalcemic se...	OMIM:612301
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Optic atrophy, Short metatarsal, ...	OMIM:101800
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Ventricular septal defect, Hypoplasia of the thymus, Sparse hair, Nail dystrophy,...	ORPHA:436252
Dpagt1-Cdg	Prolonged QT interval, Arachnodactyly, Ataxia, Akinesia, Aggressive behavior, Inability to walk, ...	ORPHA:86309
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus...	OMIM:616682
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Ventricular septal defect, Hypospadias, Adrenal hypoplasia, Brushfield spots, Crypt...	OMIM:214100
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Marden-Walker Syndrome	Abnormal penis morphology, Skeletal muscle atrophy, Severe short stature, Hypospadias, Ventricula...	ORPHA:2461
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,...	ORPHA:3455
Cat Eye Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic left heart, Total...	OMIM:115470
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis	ORPHA:504476
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Short stature	OMIM:615503
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Patent ductus ...	ORPHA:464311
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Short stature, Pulmonary artery stenosi...	OMIM:301030
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Ataxia, Unsteady gait, Optic atrophy, Shortene...	OMIM:614947
Noonan Syndrome 1	Male infertility, Hypospadias, Ventricular septal defect, Short stature, Postnatal growth retarda...	OMIM:163950
Rubinstein-Taybi Syndrome 1	Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Papill...	OMIM:180849
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Rick...	ORPHA:289176
Wolfram Syndrome	Gastrointestinal hemorrhage, Ataxia, Malabsorption, Optic atrophy, Cardiomyopathy, Gastric ulcer,...	ORPHA:3463
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Myocard...	ORPHA:892
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu...	OMIM:171300
3Mc Syndrome 1	Ventricular septal defect, Diastasis recti, Supernumerary nipple, Highly arched eyebrow, Postnata...	OMIM:257920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Peripheral pulmonary artery stenosis, Ventricular septal defect, Highly arched eyeb...	OMIM:280000
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal ...	ORPHA:909
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Hyperthyroidism, Nonautoimmune	Hyperactivity, Tachycardia, Increased circulating thyroglobulin level	OMIM:609152
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelination, Dilated...	ORPHA:255210
Dysosteosclerosis	Ventricular septal defect, Short stature	ORPHA:1782
Codas Syndrome	Ventricular septal defect, Short stature, Cryptorchidism, Rectovaginal fistula, Atrial septal def...	OMIM:600373
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Restlessness, At...	ORPHA:466677
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Mgat2-Cdg	Ventricular septal defect, Abnormality of the endocrine system, Patent ductus arteriosus, Abnorma...	ORPHA:79329
Diamond-Blackfan Anemia 10	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic...	OMIM:613309
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Keratoconjunctivitis sicca, Hypoinsulinemia, Delayed cran...	OMIM:616260
Hajdu-Cheney Syndrome	Thick eyebrow, Ventricular septal defect, Hypospadias, Short stature, Short nail, Cryptorchidism,...	OMIM:102500
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anencephaly, Hyp...	OMIM:269860
Cornelia De Lange Syndrome 1	Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Short stature, Curly eye...	OMIM:122470
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Short stature, Highly arch...	ORPHA:261330
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Generalized hyperpigmentation, Ventricular septal defect, Sparse eyelashes, Supernumerary nipple,...	ORPHA:1071
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:616975
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Dilatation of the ventricular cavity, Pul...	ORPHA:459070
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Abnormal pulmon...	ORPHA:2162
Alg9-Cdg	Hepatomegaly, Torticollis, Ventricular septal defect, Rhizomelia, Hypoplasia of the musculature, ...	ORPHA:79328
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor...	ORPHA:466791
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Palmoplanta...	OMIM:231550
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Heart block, Raynaud phenomenon, ...	ORPHA:416
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defec...	ORPHA:464306
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Curly hair, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Syno...	OMIM:618268
Loeys-Dietz Syndrome 5	Scapular winging, Decreased muscle mass, Ventricular septal defect, Short stature, Growth delay, ...	OMIM:615582
Microphthalmia, Syndromic 2	Flexion contracture, Laterally curved eyebrow, Atrial septal defect, Contracture of the proximal ...	OMIM:300166
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:96253
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggressive behavior...	ORPHA:580
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Hepatocellular carcinoma, Abnormal erythrocyte enzy...	ORPHA:101330
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Melas	Wolff-Parkinson-White syndrome, Peripheral axonal neuropathy, Intestinal pseudo-obstruction, Atax...	ORPHA:550
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Vascular dilatation	OMIM:219730
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia	ORPHA:293173
Cogan Syndrome	Keratitis, Leukocytosis, Conjunctivitis, Thrombocytosis, Anemia	ORPHA:1467
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Spina bifida, Bifid uterus, Absent eyelashes, Cryptor...	OMIM:256520
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Depression, Progressive gait ataxia, Falls, Dysphagia, Loss of ambulation	ORPHA:329308
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Charge Syndrome	Micrognathia, Hand monodactyly, Hypocalcemia, Self-mutilation, Hypoplasia of the ulna, Facial pal...	OMIM:214800
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Optic disc pallor, Arachnodactyly, Ataxia, Coxa valga, Inability to walk, Metaphyseal...	OMIM:620083
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Sinus bradycardia, Gastroesophageal reflux, Difficulty walking, Dys...	OMIM:619482
Renpenning Syndrome 1	Brittle hair, Hypospadias, Ventricular septal defect, Short stature, Phimosis, Situs inversus tot...	OMIM:309500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulat...	ORPHA:444077
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ...	ORPHA:2785
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Ventricular septal defect, Hypospadias, Sparse eyebrow, Male urethral meatus s...	ORPHA:464738
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Ventricular septal defect, Short stature, Postnatal growth retardation, Long eyela...	OMIM:212066
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Growth delay, Umbilical hernia, ...	OMIM:613884
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Cryptorchidism,...	OMIM:229850
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Short stature, Pulmonary arte...	OMIM:619268
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Atrial sep...	OMIM:300855
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Congestive heart failu...	OMIM:615512
Teebi-Shaltout Syndrome	Ventricular septal defect, Short stature, Highly arched eyebrow, Slow-growing hair, Low anterior ...	OMIM:272950
Tangier Disease	Peripheral axonal neuropathy, Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Facial ...	ORPHA:31150
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Joint stiffness, Flexion contracture, Optic atrophy, Anemia	ORPHA:847
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Cleft palate, Rhizome...	OMIM:164745
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Short stature, Elbow flexion contr...	OMIM:178110
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Sub...	ORPHA:509
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulum morphology, Retinal dystrophy...	ORPHA:397715
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Knee flexion contracture, Sparse hair, Atrial septal defect, Micropenis, Pat...	OMIM:210710
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Hypoplastic toenails, Cryp...	ORPHA:261337
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Jacobsen Syndrome	Ventricular septal defect, Short stature, Spina bifida, Cryptorchidism, Coarctation of aorta, Gro...	ORPHA:2308
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intrauterine growth retardation, Ventricular septal defect, Hypoplasia of the thymus	OMIM:243150
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Osteomyelitis, Rectal abscess	OMIM:116920
3-Methylglutaconic Aciduria, Type Viii	Neutropenia, Bradycardia, Dysphagia	OMIM:617248
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Gastrointestinal stroma tumor, Hypertension, ...	ORPHA:139411
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Type 1 mu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Type 1 mu...	ORPHA:352665
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, T ...	OMIM:251260
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Short stature	OMIM:610536
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Osteopenia, Ataxia, Craniosynostosis, Cran...	ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Dilat...	OMIM:610505
Renal Agenesis	Absent vas deferens, Ventricular septal defect, Aplasia/hypoplasia of the uterus	ORPHA:411709
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Facial hypotonia, Cryptorchidism, Synophrys, Low anterior hairline, Sm...	OMIM:613458
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas...	ORPHA:398079
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Emotional lability,...	OMIM:250100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Hypospadias, Truncus arteriosus, Ventricular septal defect, Facial palsy, ...	ORPHA:508498
Mend Syndrome	Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggressive beh...	ORPHA:401973
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Yellow nails, Patent ductus arteriosus, Varicose veins, Distichiasis, ...	OMIM:153400
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Ataxia, Optic neuropathy, Lethargy, Hypertrophic car...	ORPHA:2609
Marshall-Smith Syndrome	Brittle hair, Ventricular septal defect, Short stature, Highly arched eyebrow, Bilateral cryptorc...	OMIM:602535
Biotinidase Deficiency	Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Lethargy	OMIM:253260
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality of the uterus, Atrial sept...	ORPHA:567
Focal Dermal Hypoplasia	Alopecia, Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphra...	ORPHA:2092
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Kabuki Syndrome 1	Ventricular septal defect, Short stature, Premature thelarche, Highly arched eyebrow, Postnatal g...	OMIM:147920
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait	OMIM:207800
Degcags Syndrome	Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, At...	OMIM:619488
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:99413
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Mosaic Monosomy X	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:99228
Monosomy X	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:99226
Turner Syndrome	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos...	ORPHA:881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Optic atrophy, Pigmentary retinopathy, Retina...	OMIM:613154
Johanson-Blizzard Syndrome	Atrial septal defect, Micropenis, Hypothyroidism, Abnormality of the nail, Hepatomegaly, Hypospad...	OMIM:243800
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigmentation of hair, Retinal ...	OMIM:219800
Arima Syndrome	Retinal dystrophy, Ataxia, Postaxial hand polydactyly, Optic atrophy, Esophageal varix, Postaxial...	OMIM:243910
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Fronta...	ORPHA:506
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot...	OMIM:619471
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Talipes, Severe generalized osteoporosis, Micrognathia, Optic atrophy, Hypoplast...	OMIM:210730
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of...	OMIM:218330
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Hajdu-Cheney Syndrome	Hepatomegaly, Ventricular septal defect, Mitral stenosis, Hypospadias, Short stature, Abnormal fi...	ORPHA:955
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Supernumerary nipple, ...	ORPHA:373
Tarp Syndrome	Finger syndactyly, Broad-based gait, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial ...	ORPHA:2886
Combined Oxidative Phosphorylation Deficiency 39	Ankle clonus, Sinus bradycardia	OMIM:618397
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia	OMIM:602579
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Muscular ventricular s...	OMIM:157800
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Weill-Marchesani Syndrome 1	Short stature, Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, ...	OMIM:277600
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Proportionate short stature, Postnatal growth retardation, Patent duct...	ORPHA:79345
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Ventricular sep...	ORPHA:818
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of ...	ORPHA:268249
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hyp...	OMIM:609460
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Atrial septal defect, Pancreatic hypoplasia, Patent ...	OMIM:619991
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Ventricu...	ORPHA:268261
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rickets, Rod-cone dyst...	OMIM:268315
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Micrognathia, High palate, Bradycardia, Pulmonary insufficiency	OMIM:614437
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Hardikar Syndrome	Cleft soft palate, Portal hypertension, Intestinal malrotation, Hematemesis, Celiac disease, Hype...	OMIM:301068
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Short stature, Precocious...	ORPHA:438213
Phelan-Mcdermid Syndrome	Ventricular septal defect, Hypoplastic toenails, Patent ductus arteriosus, Long eyelashes, Toenai...	OMIM:606232
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Atrial septal defect, Spina bifida occulta, Clitoral h...	OMIM:135900
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atr...	ORPHA:672
Apert Syndrome	Overriding aorta, Ventricular septal defect, Cryptorchidism, Rhizomelic arm shortening, Vaginal a...	OMIM:101200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Short stature, Cryptorchidism, Pat...	ORPHA:353281
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Genu...	OMIM:619321
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Spina bifida occulta, Small thenar eminence, Pectoralis ...	OMIM:607323
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen...	ORPHA:1435
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Short stature, Pulmo...	OMIM:235730
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Synophrys, Fle...	OMIM:619503
Weill-Marchesani Syndrome 2	Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ...	OMIM:608328
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypoplasia of the ti...	ORPHA:1827
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Maternal diabetes, Short stature, Cryptorchidism, ...	OMIM:134780
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Widow's peak, Ventricular septal defect, Thick eyebrow	OMIM:619229
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Alzheimer Disease 3	Neurofibrillary tangles	OMIM:607822
Arboleda-Tham Syndrome	Ventricular septal defect, Freckling, Highly arched eyebrow, Bilateral cryptorchidism, Secundum a...	OMIM:616268
Alzheimer Disease 4	Neurofibrillary tangles	OMIM:606889
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Cerebrocostomandibular Syndrome	Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence...	ORPHA:1393
Aicardi Syndrome	Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Hiat...	ORPHA:50
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Yunis-Varon Syndrome	Sparse scalp hair, Hypospadias, Ventricular septal defect, Short stature, Cardiomegaly, Postnatal...	ORPHA:3472
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, Ca...	OMIM:249420
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Epiphyseal stippling	OMIM:601539
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Abnormali...	ORPHA:199
Legius Syndrome	Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Neurofibroma, Desmoid tum...	ORPHA:137605
Tibial Hemimelia	Absent tibia	OMIM:275220
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,...	OMIM:613843
Digeorge Syndrome	Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyroid hormone level,...	OMIM:188400
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Intestinal malrotation, ...	OMIM:300373
Esophageal Atresia	Ventricular septal defect, Abnormal external genitalia, Maternal diabetes, Coarctation of aorta, ...	ORPHA:1199
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Niemann-Pick Disease, Type C1	Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Neurofibrillary tangles, Splenomegaly, Foam...	OMIM:257220
Wolfram Syndrome 2	Gastric ulcer, Optic atrophy, Optic neuropathy, Depression	OMIM:604928
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Par...	OMIM:301044
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Abn...	ORPHA:2072
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Fused c...	ORPHA:83617
Homozygous Familial Hypercholesterolemia	Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo...	ORPHA:391665
Costello Syndrome	Deep-set nails, Curly hair, Ventricular septal defect, Short stature, Rhabdomyosarcoma, Thin nail...	OMIM:218040
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro...	OMIM:115310
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Short stature, Postnatal growth re...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Short stature, Postnatal growth re...	ORPHA:353277
Norrie Disease	Retinal detachment, Aggressive behavior, Optic atrophy, Retinal dysplasia, Retinal fold	OMIM:310600
Turcot Syndrome With Polyposis	Intestinal polyposis, Papilledema, Hyperpigmentation of the fundus, Ataxia, Epiretinal membrane, ...	ORPHA:99818
Okamoto Syndrome	Facial hypertrichosis, Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventr...	ORPHA:2729
Zttk Syndrome	Absent gallbladder, Curly hair, Ventricular septal defect, Short stature, Sparse eyebrow, Patent ...	OMIM:617140
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles	OMIM:616840
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Synophrys, Atrial septal defect, Hypothyroidism, Patent foramen ovale, Abn...	OMIM:607872
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatomegaly, Ventricular septal defect, Splenomegaly, Primary amenorrhea, Growth delay, Weakness...	OMIM:619418
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Sparse lower eyelashes...	OMIM:154400
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Brittle Cornea Syndrome	Camptodactyly, Abnormality of hair pigmentation, Pulmonic stenosis, Mitral valve prolapse	ORPHA:90354
Baller-Gerold Syndrome	Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, Bifid uvula, Hypoplasia o...	OMIM:218600
Pmm2-Cdg	Osteopenia, Joint laxity, Cataract, Multiple joint contractures, Hypogonadotropic hypogonadism, E...	ORPHA:79318
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Micrognath...	ORPHA:904
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Hypospadias, Ventricular septal defect, Short stature, Highly arched eyebr...	OMIM:194190
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Maternal diabetes, Cryptorchidism, Absent penis,...	ORPHA:49
Solitary Fibrous Tumor	Hypophosphatemic rickets, Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Fine hair, Transposition of the great arteries, S...	ORPHA:3474
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Ventricular septal defect, Ankle flexion contracture, Postnat...	OMIM:268300
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Ventricular septal defect, Short stature, Hypoplastic toenails, Cryptorchidism, Pate...	OMIM:619522
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, A...	OMIM:619297
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Increased circulating androgen concentration, Premature adrenarche, Generalize...	ORPHA:2976
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Prolidase Deficiency	Abnormality of retinal pigmentation, Recurrent cystitis, Abnormal fingernail morphology, Low ante...	ORPHA:742
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy...	OMIM:276820
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t...	OMIM:161700
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina...	ORPHA:2369
Niemann-Pick Disease, Type C2	Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Neurofibrillary tangles, Splenomegaly, Foam...	OMIM:607625
Joubert Syndrome 21	Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Short ribs, Dysphagia, Retinopathy	OMIM:615636
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Small scrotum, Ventricular septal defect, Enlarged labia mino...	OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Atrial septal defect, Hepatomegaly, Hypospadias, Cryptorchidism,...	OMIM:312870
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles	OMIM:117300
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Cryptorchidism, Ocular albinism, Abnormality of the ...	ORPHA:2719
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Synophrys, Ventricular septal hypertrophy, Small nail, Thin eyebrow, I...	OMIM:608670
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Leprechaunism	Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu...	ORPHA:508
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Postnatal growth r...	OMIM:192350
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Precocious puberty, Absent thumbnail, Umbilical hernia, Micropenis	ORPHA:1934
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Peripheral pulmonary artery stenosis, Ventricular septal defect, Short stature	OMIM:619575
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Optic neuropathy, Broad ischia, Optic atrophy, Diaphysea...	OMIM:619727
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Lesch-Nyhan Syndrome	Testicular atrophy, Short stature	OMIM:300322
Early-Onset Autosomal Dominant Alzheimer Disease	Neurofibrillary tangles, Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Williams-Beuren Syndrome	Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Early onset of sexual matu...	OMIM:194050
Hermansky-Pudlak Syndrome	Renal insufficiency, Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nev...	ORPHA:79430
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Pigmentary retinopathy, Papillary thyroid carcin...	OMIM:118450
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Orthostatic hypotension due to autonomic dysfunction, Impulsivity, An...	ORPHA:642
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Epispadias, Cryptorchidism, Patent ductus art...	OMIM:615948
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Peters-Plus Syndrome	Facial hypertrichosis, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular s...	OMIM:261540
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
African Trypanosomiasis	Papilledema, Pericarditis, Abnormal EKG, Akinesia, Aggressive behavior, Myocarditis, Congestive h...	ORPHA:3385
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles	OMIM:607485
Sotos Syndrome	Hip contracture, Hypopigmentation of the skin, Hypospadias, Ventricular septal defect, Ankle flex...	ORPHA:821
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Pineal cyst, Right aortic arch, Lower-limb joint contracture, Sparse l...	ORPHA:513456
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Broad eyebrow, Torticollis, Bicuspid aortic valve, Hypospadias, Ventricular septal...	OMIM:619475
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Varicose veins, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Ventricular septal defect, Short stature, Axillary freckling, Abnormal heart ...	ORPHA:363700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Camptoda...	OMIM:143095
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy	OMIM:616562
Gerstmann-Straussler Disease	Neurofibrillary tangles	OMIM:137440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Sparse scalp hair, Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Short ...	OMIM:271640
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt...	OMIM:107480
Progressive Non-Fluent Aphasia	Neurofibrillary tangles	ORPHA:100070
Pallister-Killian Syndrome	Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Camp...	OMIM:601803
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Shawl scrotum	ORPHA:1974
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Cerebrocostomandibular Syndrome	Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Elbow flexion ...	OMIM:117650
Proboscis Lateralis	Abnormal eyebrow morphology, Ventricular septal defect, External genital hypoplasia, Abnormal loc...	ORPHA:141099
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Ventricular septal defect, Splenomegaly, Bile duct proliferation, Type I diabetes m...	OMIM:619525
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Yunis-Varon Syndrome	Sparse scalp hair, Absent nipple, Hypospadias, Ventricular septal defect, Sparse eyelashes, Spars...	OMIM:216340
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Flexion contracture, Webbed penis, Micropenis, Abnormality ...	ORPHA:261552
Adult-Onset Dystonia-Parkinsonism	Neurofibrillary tangles, Abnormal circulating creatine kinase concentration, Hypomimic face	ORPHA:199351
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Short stature	OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Umbilical hernia, Small scrotum, Ventricular septal defect	OMIM:620330
Prolidase Deficiency	Hyperimidodipeptiduria, Facial hirsutism, Low posterior hairline	OMIM:170100
Supranuclear Palsy, Progressive, 2	Neurofibrillary tangles	OMIM:609454
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct...	OMIM:164210
Supranuclear Palsy, Progressive, 1	Neurofibrillary tangles	OMIM:601104

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 Pepd

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 Pepd.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Defective extracellular matrix remodeling in brown adipose tissue is associated with fibro-inflammation and reduced diet-induced thermogenesis.	Cell reports (June 2023)	Pepd^{tm1a(KOMP)Wtsi}	37318951
Prolidase Deficiency Causes Spontaneous T Cell Activation and Lupus-like Autoimmunity.	Journal of immunology (Baltimore, Md. : 1950) (March 2023)	Pepd^{tm1a(KOMP)Wtsi}	PMC9946897
Dysregulation of macrophage PEPD in obesity determines adipose tissue fibro-inflammation and insulin resistance.	Nature metabolism (April 2022)	Pepd^{tm1a(KOMP)Wtsi}	35478031
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pepd^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Pepd^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pepd^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pepd^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pepd^{tm1a(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Pepd^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pepd^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pepd^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pepd^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pepd^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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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Gene: Pepd MGI:97542

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Spleen Immunophenotyping

Eye Morphology

Mesenteric Lymph Node Immunophenotyping

X-ray

X-ray

X-ray

X-ray

Bone marrow immunophenotyping

Eye Morphology

Anti-nuclear antibody assay

DSS Histology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pepd mutations

Histopathology

IMPC related publications

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