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Gene: Ttc7 MGI:1920999

Gene Summary

Name:

tetratricopeptide repeat domain 7

Synonyms:

1700007L07Rik, hea, 1110035E02Rik, fsn

Order Alleles

IMPC Data Collections

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 coat/hair pigmentation	Ttc7^em1(IMPC)J	HET	Early adult	4.02×10^-08
abnormal vocalization	Ttc7^em1(IMPC)J	HET	Early adult	2.42×10^-10
decreased lean body mass	Ttc7^em1(IMPC)J	HET	Early adult	2.00×10^-06
increased total body fat amount	Ttc7^em1(IMPC)J	HET	Early adult	1.58×10^-06
abnormal coat/ hair morphology	Ttc7^em1(IMPC)J	HET	Early adult	2.21×10^-05
preweaning lethality, complete penetrance	Ttc7^em1(IMPC)J	HOM	Early adult	0.00
decreased grip strength	Ttc7^em1(IMPC)J	HET	Early adult	2.94×10^-08

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Ttc7 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 Ttc7 (3 diseases)
Human diseases predicted to be associated with Ttc7 (2128 diseases)

The table below shows human diseases associated to Ttc7 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ...	ORPHA:436252
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300

The table below shows human diseases predicted to be associated to Ttc7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Lymphoma, Mucosa-Associated Lymphoid Type	Gastric lymphoma	OMIM:137245
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 17	Anemia, Hyperpigmentation of the skin	OMIM:617409
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Gastric Cancer	Stomach cancer	OMIM:613659
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,...	OMIM:619079
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria	ORPHA:33574
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Alopecia, Epidermal acanthosis, Sparse eyelashes, Portal hypertensio...	OMIM:607626
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbull...	OMIM:604777
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Alopecia, Hypergranulosis, Palmop...	ORPHA:79395
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrop...	ORPHA:166113
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Par...	ORPHA:398124
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus	ORPHA:3319
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation...	OMIM:618108
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Orotic Aciduria	Failure to thrive, Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anem...	OMIM:258900
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Hemolytic anemia, Jaundice	OMIM:301015
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho...	ORPHA:75564
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia...	ORPHA:90368
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi...	ORPHA:38
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Cap Polyposis	Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation	ORPHA:160148
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho...	ORPHA:263665
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp...	OMIM:209950
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast...	ORPHA:2575
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Nephronophthisis	Abnormality of retinal pigmentation, Renal insufficiency, Anemia	ORPHA:655
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich...	OMIM:607936
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Palmo...	ORPHA:100976
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri...	OMIM:604416
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po...	OMIM:616959
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Hyperkeratosis, Abno...	ORPHA:2584
Psoriasis 14, Pustular	Parakeratosis, Neutrophilia, Epidermal acanthosis, Cholangitis, Elevated circulating C-reactive p...	OMIM:614204
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia...	ORPHA:848
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene...	OMIM:612281
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis	OMIM:612908
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure...	ORPHA:436159
Psoriasis 2	Psoriasiform dermatitis, Epidermal acanthosis, Scaling skin	OMIM:602723
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei...	OMIM:614034
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Hereditary Coproporphyria	Dark urine, Porphyrinuria, Increased urinary porphobilinogen, Hepatocellular carcinoma, Nephropat...	ORPHA:79273
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:617571
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypergranulosis, Acantholysis, Eosinophilic infiltration of the esophagus, Mal...	OMIM:615508
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl...	ORPHA:713
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk...	ORPHA:530838
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,...	ORPHA:2269
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Smooth tongue, Dystrophic fingernails, Thin n...	OMIM:257980
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Ichthyosis	ORPHA:2274
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte...	OMIM:612840
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Parakeratosis, Psoriasiform lesion, Hypercalcemia, Scaling skin, E...	ORPHA:284426
Hyperlysinemia, Type I	Hyperlysinuria, Anemia	OMIM:238700
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ...	OMIM:232800
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Erythema, Dilated cardiomyopathy, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:615821
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Dry skin, Scaling skin	OMIM:618084
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital ichthyosif...	OMIM:242300
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphad...	ORPHA:100025
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp...	OMIM:300918
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hepatomegaly, Anemia ...	ORPHA:231214
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem...	OMIM:617780
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath...	OMIM:274150
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Villous atrophy, Brittle scalp hair, Sparse eyebr...	OMIM:256500
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Erythema, Epidermal acanthosis	ORPHA:83453
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Patent ductus arte...	OMIM:617021
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju...	OMIM:614700
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Chylomicron Retention Disease	Elevated hepatic transaminase, Acanthocytosis, Increased hepatocellular lipid droplets, Failure t...	ORPHA:71
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pallor, Failure to thrive	OMIM:613561
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk...	OMIM:619208
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia	ORPHA:90036
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:615558
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia	OMIM:614082
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy	OMIM:131850
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive, Elevated urinary delta-aminolevulinic acid	OMIM:612740
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin	OMIM:113800
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Failure to thrive, Myositis, Skin rash, Follicular hyperplasia, Pu...	OMIM:615934
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Chronic constipation, Inflammation of t...	OMIM:301074
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre...	OMIM:613313
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Epidermal acanthosis, Hypergranulosis, Esophageal neoplasm, Abnormal e...	ORPHA:79501
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Abnormality of the ton...	ORPHA:47
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep...	ORPHA:101330
Ichthyosis With Confetti	Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Icht...	OMIM:609165
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Stria...	ORPHA:64745
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia...	OMIM:304790
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Failure to thrive, Microcytic anemia, Dysphagia, Cutis laxa, Hyper...	OMIM:612379
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Irida Syndrome	Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Abnormal in...	ORPHA:209981
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia...	ORPHA:93552
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Nai...	OMIM:617337
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an...	OMIM:235400
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Oroticaciduria, Schistocytosis, Anisopoikilocytosis, Renal tubular acidosis, Fail...	OMIM:616457
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Increased urinary porphobilinogen, Purple urine, Myeloprolifer...	ORPHA:100924
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+...	OMIM:606367
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Acute Radiation Syndrome	Skin ulcer, Hyperkeratosis, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Erythrokeratodermia Variabilis	Alopecia, Abnormal testis morphology, Abnormal hair morphology, Erythema, Patchy palmoplantar hyp...	ORPHA:317
Parana Hard Skin Syndrome	Hyperkeratosis, Generalized hirsutism, Thickened skin	ORPHA:2812
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans...	OMIM:618527
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine...	OMIM:619281
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar...	OMIM:604536
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin, Thrombocytopenia	OMIM:612952
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Elevated 8-dehydrocholesterol, Erythema, Elevated ...	OMIM:308050
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen...	ORPHA:158061
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus,...	ORPHA:84064
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Thrombocytopenia, Splenomegaly, Red-brown urine,...	ORPHA:79277
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism	ORPHA:2786
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Thickened skin, Lymphadenop...	ORPHA:79456
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi...	ORPHA:37042
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair...	ORPHA:79402
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Acral Peeling Skin Syndrome	Erythema, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Red urine, Cholelithias...	OMIM:263700
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Anemia	OMIM:610090
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Trichohepatoenteric Syndrome 1	Brittle hair, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increased mean platelet v...	OMIM:222470
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno...	OMIM:259710
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Malabsorp...	ORPHA:2930
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Dilated cardiomyopathy, Pa...	OMIM:605676
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Small for gestati...	OMIM:208085
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Failure to thrive, Anemia	ORPHA:28
Diamond-Blackfan Anemia 5	Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkerat...	OMIM:616295
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma...	ORPHA:89838
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Abcd Syndrome	White eyelashes, White eyebrow, Large for gestational age, Albinism, Neonatal death, Polycythemia	OMIM:600501
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Gastritis, Skin rash, Myoc...	ORPHA:809
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell co...	ORPHA:3261
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Increased circulating ferritin concentration, Ele...	OMIM:615517
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Epidermal acanthosis, Elevated circ...	OMIM:617388
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Acantholysis, Leukocytosis, Cholestasi...	ORPHA:293173
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Omenn Syndrome	Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Thickened sk...	ORPHA:39041
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Stomatitis, Elevated circulating growth hormon...	ORPHA:97280
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Muir-Torre Syndrome	Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla...	ORPHA:587
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Sézary Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Dry skin, Lymphadenopathy, Palmoplantar keratoderma, Nail d...	ORPHA:3162
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Thrombocytopenia, Leukopenia, Bone marrow ...	OMIM:619151
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Formiminoglutamic Aciduria	Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia	ORPHA:51208
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Kerat...	ORPHA:14
Proteus Syndrome	Hyperkeratosis, Splenomegaly, Lymphangioma, Epidermal acanthosis	OMIM:176920
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Skin ulcer, Weight loss, Leukopenia, Failure to thrive...	ORPHA:33355
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc...	OMIM:600462
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan...	ORPHA:498359
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Short Stature With Microcephaly And Distinctive Facies	Small for gestational age, Anisopoikilocytosis, Spotty hypopigmentation, Decreased body weight, S...	OMIM:615789
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Neurogenic bladder, Decreased body weight, Acanthocytosis	ORPHA:96180
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Ulerythema Ophryogenesis	Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Sparse lateral eyebrow	ORPHA:3406
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive, Ventricular septal ...	OMIM:614576
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis	ORPHA:79100
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ...	OMIM:308230
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Abnormal fingernail morphology	ORPHA:79147
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Poems Syndrome	Pericardial effusion, Thickened skin, Leukonychia, Weight loss, Lymphadenopathy, Thrombocytosis, ...	ORPHA:2905
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decr...	ORPHA:169154
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Idiopathic Localized Lipodystrophy	Scleroderma, Morphea, Erythema, Scaling skin	ORPHA:90158
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Hepatoerythropoietic Porphyria	Hemolytic anemia, Splenomegaly, Red-brown urine, Red urine, Erythroid hyperplasia, Hypopigmentati...	ORPHA:95159
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutro...	OMIM:266130
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis...	ORPHA:227990
Acquired Ichthyosis	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin	ORPHA:454
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express...	OMIM:247100
Reynolds Syndrome	Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,...	ORPHA:779
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Dilated cardi...	OMIM:615688
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis...	ORPHA:1304
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Anemia	ORPHA:510
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos...	OMIM:148500
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Eczema, Thyroiditis, Weight loss, Iro...	OMIM:212750
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Failure to thrive, Dry skin, Scaling skin	OMIM:609180
Chilblain Lupus	Hyperkeratosis, Skin ulcer, Chronic myelomonocytic leukemia	ORPHA:90280
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis	OMIM:606996
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, T...	OMIM:603554
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:613812
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, ...	OMIM:618373
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Purpura, Anemia, Ichthyosis	ORPHA:3204
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis...	ORPHA:227982
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Fibrodysplasia Ossificans Progressiva	Failure to thrive, Anemia	ORPHA:337
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Aminoaciduria, Elevated urinary formiminoglutamic acid le...	OMIM:229100
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Generalized...	ORPHA:2890
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card...	OMIM:606069
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin...	ORPHA:44890
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis, Abn...	ORPHA:525
Q Fever	Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa...	ORPHA:781
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis	ORPHA:79503
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Peritonitis, Hemoglobinuria, Microangiopat...	ORPHA:90038
Prolidase Deficiency	Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Skin...	ORPHA:742
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Int...	OMIM:619381
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreat...	ORPHA:79312
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effusion, Myocarditis, Leuk...	ORPHA:292
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair, Follicular hyperkeratosis	OMIM:618546
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Isolated Agammaglobulinemia	Failure to thrive, Abnormality of the tonsils, Abnormality of neutrophils, Malabsorption, Thrombo...	ORPHA:229717
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Anemia	OMIM:246450
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullous...	ORPHA:312
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Dilated cardiomyop...	ORPHA:3260
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Dilated...	ORPHA:20
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg...	OMIM:170100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, ...	ORPHA:169160
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Cutaneous Mastocytoma	Thickened skin, Erythema, Scaling skin, Lymphadenopathy	ORPHA:79455
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri...	ORPHA:447
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thrive, Thrombocytopenia	ORPHA:90045
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Onycholysis, Nail dystrophy, Scaling skin	OMIM:270300
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Anemia	ORPHA:2668
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Sea-Blue Histiocytosis	Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ...	ORPHA:158029
Diamond-Blackfan Anemia	Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Neutropenia, Atrial ...	ORPHA:124
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Patent ductus arteriosus, Anemia, Thrombocytopenia	ORPHA:2123
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Failure to thrive	OMIM:230350
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to thrive,...	OMIM:618495
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridocyclitis, Diarrhea, C...	OMIM:240300
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Recon Progeroid Syndrome	Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Anemia, Scaling skin, Dry skin, Throm...	OMIM:620370
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Medullary nephrocalcinosis, Poikilocytosis, Acanthocytosis	OMIM:618947
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea...	ORPHA:54251
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Weight loss, Thrombocy...	ORPHA:69077
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia, Abnormality of the kidney	ORPHA:284227
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Petechiae, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosple...	OMIM:608013
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Failure to thrive in infancy	OMIM:619175
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Gastrointestinal ...	ORPHA:39812
Familial Melanoma	Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast	ORPHA:618
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor, Failure to thrive	ORPHA:99931
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Renal insufficiency, Proteinuria	OMIM:245900
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Anemia, Cardiomegaly	OMIM:620135
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleeding, G...	ORPHA:1059
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ...	ORPHA:436252
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemic pallor, Anemia of inad...	ORPHA:86839
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Amme Complex	Hematuria, Elliptocytosis	OMIM:300194
Mal De Meleda	Epidermal acanthosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:87503
Atransferrinemia	Abnormality of the liver, Atransferrinemia, Hypochromic anemia	OMIM:209300
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for g...	OMIM:557000
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Small for gestational age, Elevated circulating C-reactive protein conce...	ORPHA:90051
Plummer-Vinson Syndrome	Tongue atrophy, Concave nail, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal w...	ORPHA:54028
Recessive X-Linked Ichthyosis	Cryptorchidism, Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Lupus Erythematosus Tumidus	Scaling skin	ORPHA:90283
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n...	ORPHA:1010
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Lymphocy...	ORPHA:514
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Infantile Liver Failure Syndrome 1	Hepatomegaly, Macrocytic anemia, Failure to thrive, Hepatic steatosis, Anemia	OMIM:615438
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin...	OMIM:612714
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iro...	OMIM:269200
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria...	OMIM:612925
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Dark yellow urine, Atretic gallbladder, Splenomegaly, Ja...	ORPHA:30391
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612926
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Thromboc...	ORPHA:108
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Cleft palate, Hyperkeratosis, Ichthyosis, Abnorm...	ORPHA:494
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia	ORPHA:75233
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Severe B lymphocytopenia, Epidermal acanthosis, Failure to thrive, B...	ORPHA:83617
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair	OMIM:618625
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifo...	OMIM:613576
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ...	ORPHA:440713
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia...	OMIM:175500
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Copper Deficiency, Familial Benign	Failure to thrive, Decreased circulating copper concentration, Anemia	OMIM:121270
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Uncombable hair, Coliti...	OMIM:614602
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Anorectal anomaly, Premature graying of hair, Sparse hair...	ORPHA:1775
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612924
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Ren...	OMIM:212065
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin	OMIM:146700
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro...	OMIM:613404
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Keratitis, Scarring alopecia of scalp, Palmoplantar hyperkeratosis, Nail dyst...	OMIM:226670
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia	ORPHA:375
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,...	OMIM:617056
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ...	ORPHA:289916
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Acantholysis, ...	ORPHA:537
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Hyperpigmentation of the skin, Renal agenesis, Small ...	OMIM:600901
Sjögren-Larsson Syndrome	Hyperkeratosis, Erythema, Dry skin, Ichthyosis	ORPHA:816
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circ...	OMIM:235200
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly	OMIM:269840
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin, Neutropenia	OMIM:610798
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation, Abnormality of the urinary system, Anemia	ORPHA:79411
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenome...	OMIM:269920
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo...	OMIM:616050
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Tetralogy of Fallot, Low posterior hairline, Hyperkeratosis...	OMIM:613707
Potocki-Shaffer Syndrome	Micropenis, Nephroblastoma, Anemia	ORPHA:52022
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle	ORPHA:79481
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Hirsutism, Anemia, Fragile nails, Recur...	OMIM:617475
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ectopic ki...	OMIM:227650
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Generalized hyperpigmentation, Thrombocytopenia...	ORPHA:47612
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Incontinentia Pigmenti	Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Nail pits, Fin...	OMIM:308300
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Dry skin, Increased body weight, Anemia	OMIM:614450
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Dermatitis, Atopic	Ichthyosis, Dry skin, Pallor, Facial erythema	OMIM:603165
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia, Abnormal stomach morphology	ORPHA:281090
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Singleton-Merten Syndrome 2	Hyperkeratosis, Aortic valve stenosis, Psoriasiform lesion, Aortic valve calcification	OMIM:616298
Noonan Syndrome 8	Atrial septal defect, Failure to thrive, Curly hair, Ventricular septal defect, Large for gestati...	OMIM:615355
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Weight loss, Thrombocytosis	ORPHA:134
Costello Syndrome	Deep-set nails, Ventricular septal defect, Redundant skin, Failure to thrive in infancy, Abnormal...	ORPHA:3071
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Anemia	ORPHA:1192
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Epidermal acanthosis, Failure to thrive in infancy, Elevated circulat...	OMIM:612852
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Cryptorchidism, Gastroesophageal reflux, High palate, Follicular hyperkeratosis, Dry ...	ORPHA:486815
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Abnormal er...	ORPHA:324636
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Elevated urinary dopamine level, Abnormalit...	OMIM:256700
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Pancreatitis, Thrombocy...	ORPHA:27
Atelis Syndrome 1	Anemia, Leukopenia, Irregular hyperpigmentation, Cafe-au-lait spot, Thrombocytopenia	OMIM:620184
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopeni...	OMIM:606003
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop...	OMIM:614520
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Idiopathic Trachyonychia	Ridged nail, Thin nail, Autoimmune thrombocytopenia, Concave nail, Nail pits, Patchy alopecia, Na...	ORPHA:79153
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat...	ORPHA:589
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E...	ORPHA:549
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T...	OMIM:617052
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Gastrointestinal inflammation, Anonychia, Palmoplantar keratoderm...	ORPHA:79410
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ...	OMIM:610768
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Acanthosis ni...	OMIM:612526
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ...	OMIM:613102
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Skin ulcer, Weight loss, Gastro...	ORPHA:3287
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Pallor, Dif...	ORPHA:276556
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Palmoplantar hyperkeratosis, Sparse lateral eyebrow	ORPHA:363523
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic an...	ORPHA:77297
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Myocarditis, Peritonitis, Elevated circulatin...	ORPHA:36234
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Pallor, Dif...	ORPHA:276575
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Small for gestational age, Highly arched eyebrow, Elevated circulating luteiniz...	OMIM:618419
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Bone marro...	OMIM:614742
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Low posteri...	OMIM:604173
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen...	OMIM:613845
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Myositis, Sinusitis, Skin rash, S...	OMIM:617591
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid...	ORPHA:209964
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel...	ORPHA:46059
Mpdu1-Cdg	Elevated circulating creatine kinase concentration, Scaling skin, Decreased response to growth ho...	ORPHA:79323
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato...	ORPHA:157794
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Parotitis, Myocarditis, Lymphadenitis, Endocarditis, Wei...	ORPHA:31205
Oslam Syndrome	Anemia	OMIM:165660
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Hypoplasia of penis, Spherocytosis	ORPHA:251066
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L...	ORPHA:79477
Kid Syndrome	Epidermal acanthosis, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma...	ORPHA:477
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Congenital nonbu...	ORPHA:85212
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Elevated trans...	ORPHA:465508
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Hematemesis...	OMIM:615846
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Naxos Disease	Subungual hyperkeratosis, Abnormal morphology of right ventricular trabeculae, Right ventricular ...	OMIM:601214
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Generalized hyperpigmentation, Thrombocytopenia, Premature graying...	ORPHA:3322
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Ollier Disease	Lymphangioma, Skin ulcer, Anemia	ORPHA:296
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Chromomycosis	Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Lymphangiectasis	ORPHA:182
Sandhoff Disease	Splenomegaly, Hepatomegaly, Failure to thrive	ORPHA:796
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Scleroderma	OMIM:176100
Hartnup Disease	Abnormal urinary color, Irregular hyperpigmentation, Hypopigmented skin patches, Neutral hyperami...	ORPHA:2116
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Large for gestational age, Decreased circulating free fa...	ORPHA:324575
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Centrifugal Lipodystrophy	Lymphadenitis, Alopecia, Erythema, Scaling skin	ORPHA:90156
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormality of...	ORPHA:36426
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Nephrotic syndrome, Arthritis, Conj...	ORPHA:575
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Kerion Celsi	Alopecia, Lymphadenopathy	ORPHA:499
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Ascites	ORPHA:834
Optic Atrophy 1	Pallor	OMIM:165500
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis	ORPHA:664
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e...	OMIM:619573
Dermotrichic Syndrome	Aminoaciduria, Anemia	ORPHA:99688
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia	OMIM:604290
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Reticular hyperpigmentation, Pure red cell aplasia	OMIM:618165
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Dila...	ORPHA:79230
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Hypertroph...	ORPHA:276580
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Hypospadias, Microcytic anemia	ORPHA:98791
Lamellar Ichthyosis	Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Dry skin, Abnormality of the na...	ORPHA:313
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym...	ORPHA:83469
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Diarrh...	ORPHA:2070
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Abnormal circulating porphyrin concentration, Erythema, Decreased liver functi...	ORPHA:79278
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Failure to thrive	OMIM:619046
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Anemia	ORPHA:79405
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Thrombocytopenia, Splen...	OMIM:230800
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormal tongue morphology, Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis, Na...	ORPHA:158668
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Anemia	ORPHA:436
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepa...	OMIM:277900
L-Ferritin Deficiency	Decreased circulating ferritin concentration, Alopecia	OMIM:615604
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Skin rash, Splenomegaly, Jaundice, Anemia, Atrial septal...	ORPHA:290
Tufted Angioma	Anemia, Petechiae, Thrombocytopenia, Purpura	ORPHA:1063
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Nail pits, Premature ...	OMIM:127550
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism, Leukopenia	OMIM:614171
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Psoriasiform lesion	ORPHA:163525
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Mye...	ORPHA:454836
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias	OMIM:250790
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Hyperpigmentation of the skin, Renal agenesis, Small ...	OMIM:227645
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt...	ORPHA:3363
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Ramon Syndrome	Hyperkeratosis, Failure to thrive, Generalized hirsutism, Narrow palate	ORPHA:3019
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ...	OMIM:275400
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Anemia	OMIM:208060
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Enlarged tonsils, Proximal renal tubular acidosis, Nephrolithiasis, A...	ORPHA:2785
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate	OMIM:600331
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly	ORPHA:313855
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Hypochrom...	OMIM:618213
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count...	OMIM:609981
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Facial erythema,...	OMIM:619503
Ethanolaminosis	Cardiomegaly	OMIM:227150
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Gastroesophageal reflux	ORPHA:36386
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Perianal erythema, Splenomegaly, Paronychia, Decreased serum zin...	OMIM:201100
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Hemangioma, Volvulus, Intussuscepti...	OMIM:112200
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Brittle hair, Small for gestational age, Trichoschisis, Malabsorption, Fi...	OMIM:601675
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Weight loss, Hematuria, Anemia, Thrombocytopenia	ORPHA:90060
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso...	ORPHA:33226
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Dilated cardiom...	OMIM:615895
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Late-Onset Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Anemia	ORPHA:79406
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense...	OMIM:214500
Hernia, Hiatus	Hiatus hernia	OMIM:142400
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, ...	OMIM:260400
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Chi...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Chi...	ORPHA:71526
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad...	OMIM:257200
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat...	OMIM:308800
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ...	ORPHA:446
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Relapsing Fever	Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuria, Abnormality of the urinary s...	ORPHA:91547
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Hereditary Mucoepithelial Dysplasia	Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Hyperkeratosi...	ORPHA:1839
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Iga Pemphigus	Skin vesicle, Eosinophilia, Ulcerative colitis, Acantholysis	ORPHA:555905
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Failure to th...	OMIM:251110
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Familial Adenomatous Polyposis 4	Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Uterine l...	OMIM:617100
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Hyperbiliverdinemia	Cholelithiasis, Cholestasis, Green urine	OMIM:614156
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias	ORPHA:2522
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Hyperkeratosis, Pulmonic stenosis, Atrial septal defect, H...	OMIM:615279
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Darier Disease	Acrokeratosis, Abnormal hair morphology, Thickened skin, Anal mucosal leukoplakia, Palmoplantar k...	ORPHA:218
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Chronic Mucocutaneous Candidiasis	Abnormal endocardium morphology, Abnormal fingernail morphology, Skin rash, Hepatitis, Broad nail...	ORPHA:1334
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Decreased serum iron, Abnormal circulating selenium concentrat...	ORPHA:89842
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Pyloric ste...	ORPHA:379
Sheehan Syndrome	Hyponatremia, Sparse axillary hair, Reduced circulating prolactin concentration, Sparse pubic hai...	ORPHA:91355
Johanson-Blizzard Syndrome	Alopecia, Dextrocardia, Abnormal hair pattern, Malabsorption, Abnormality of the pancreas, Anteri...	ORPHA:2315
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Pigmentary retinopathy, ...	ORPHA:436271
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Cor pulmonale, Bronch...	OMIM:300755
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, High palate, Follicular hyperkeratosis	OMIM:617066
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Nail dystro...	OMIM:616029
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Premature graying of hair, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular hepatic steatosis, Neut...	OMIM:617303
Hydatidiform Mole	Anemia	ORPHA:99927
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Failure t...	OMIM:239200
Acatalasemia	Microcytic anemia, Vitiligo	ORPHA:926
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Increased size of nasopharyngeal adenoids	OMIM:619769
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Hypophosphatemia	ORPHA:2611
Renal Hypoplasia, Bilateral	Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Renal hypoplas...	ORPHA:97362
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno...	ORPHA:199299
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Patent ductus arteriosus, Elevated circulating creatinine concentration, Cholestasi...	OMIM:608104
Fanconi Anemia, Complementation Group S	Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, Failure ...	OMIM:617883
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Ethylene Glycol Poisoning	Gastritis, Vomiting, Nausea	ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Adenohypophysitis	Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:95512
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Erythema, Cholelithiasis, Hepatic failure	OMIM:177000
Immunodeficiency 58	Helicobacter pylori infection, Psoriasiform lesion, Dysphagia, Colitis, Scaling skin, Esophagitis...	OMIM:618131
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla...	OMIM:612843
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism	OMIM:614072
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Sandifer Syndrome	Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Episodic vomiting, Anemia	ORPHA:71272
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Abnormality of the nail	ORPHA:254478
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Corticosteroid-Binding Globulin Deficiency	Anemia, Decreased urinary potassium	OMIM:611489
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Ichthyosis, Increased circulating lactate dehyd...	OMIM:185070
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong...	OMIM:602400
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia	OMIM:152700
Livedoid Vasculopathy	Pancytopenia, Hyperpigmentation of the skin, Leukocytosis, Hyperpigmented streaks, Skin ulcer, Ma...	ORPHA:542643
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Panhypophysitis	Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:95513
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, High palate, Sparse hair, Atrial septal defect, Dystrophic fingerna...	ORPHA:1340
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope...	ORPHA:1163
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu...	OMIM:300972
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Increased body weight	ORPHA:94086
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Redundant neck skin, Patent ductus arteriosus, Weight loss, Failure to thrive, Anemia	ORPHA:1842
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Weight loss...	ORPHA:520
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hyperglycinuria, Anemia, N...	OMIM:606054
Primary Lateral Sclerosis, Juvenile	Pseudobulbar paralysis, Pallor, Dysphagia	OMIM:606353
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Xerostomia, Dry skin, Hyperkeratosis, Aplasia/Hypoplas...	ORPHA:238468
C1Q Deficiency 2	Elevated circulating C-reactive protein concentration, Anemia, Facial erythema	OMIM:620321
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis, Sparse body hair	ORPHA:85274
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Failure to thrive, Pure red cell...	OMIM:613179
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow	OMIM:606242
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Small for gestational age, Hypochromic microcytic anemia, Mild proteinuria, ...	OMIM:619147
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Protein...	ORPHA:94093
Adams-Oliver Syndrome	Failure to thrive, Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Acantholysis, Absent eyelashes, Cleft palate, Cardiomyopathy, Absen...	ORPHA:158687
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Erythema, Onychogryposis, Palmoplantar keratoderma, Smooth tongue, Nail dystrophy, Hypo...	ORPHA:79396
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria...	ORPHA:77259
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast...	ORPHA:160
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Anemia, Infect...	ORPHA:319251
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim...	ORPHA:1855
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni...	OMIM:251100
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Fat malabsorption, Exocrine pancreatic insuf...	ORPHA:309108
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Thickened skin, Abnormal hair morphology, Skin ulcer, ...	ORPHA:2526
Dowling-Degos Disease	Abnormal fingernail morphology, Hyperkeratosis, Anal margin squamous cell carcinoma, Skin vesicle...	ORPHA:79145
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Fanconi Anemia, Complementation Group P	Pancytopenia, Horseshoe kidney, Pelvic kidney, Cafe-au-lait spot, Anemia, Vitiligo	OMIM:613951
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of hair texture, Splenomegaly, Lym...	ORPHA:667
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m...	ORPHA:98813
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Oroticaciduria, Stage 5 chronic kidney disease, Fine hair, Anemia, Le...	OMIM:222700
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos...	ORPHA:98907
Pituitary Apoplexy	Hyponatremia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti...	ORPHA:95613
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Pallor, Bone ma...	OMIM:609053
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Perianal erythema, S...	OMIM:308205
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Ichthyosis	ORPHA:177
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Elevated circulating phytanic acid concentration, Cleft palate, Ichthyosis, Severe fail...	OMIM:215100
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79279
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ectopic kidney, Reticulocytopenia, Steroid-responsive anemia, Anemia, Renal du...	OMIM:613309
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Renal insufficie...	OMIM:203800
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Superficial Epidermolytic Ichthyosis	Erythema, Thin skin, Acantholysis	ORPHA:455
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Skin ulcer, Anal canal squamous carcinoma	ORPHA:217390
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Obesity And Hypopigmentation	Red hair, Obesity	OMIM:620195
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Tetralogy of Fallot, Horsesh...	ORPHA:2886
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ...	ORPHA:650
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy	OMIM:129200
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c	OMIM:618858
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Microcytic anemia, Malabsorption, Hy...	ORPHA:168569
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Pigmentary retinopathy, ...	OMIM:220110
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Porphyria Variegata	Elevated hepatic transaminase, Hyponatremia, Thickened skin, Abnormal circulating porphyrin conce...	ORPHA:79473
Caspase 8 Deficiency	Splenomegaly, Failure to thrive, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Homocitrullinuria	OMIM:238970
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver...	ORPHA:2169
Fumarase Deficiency	Failure to thrive, Necrotizing enterocolitis, Intrahepatic cholestasis, Perimembranous ventricula...	OMIM:606812
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, High, narrow palate, Cry...	ORPHA:3051
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increased urinary O-linked sialop...	ORPHA:812
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating hepatomegaly, Fluctuatin...	OMIM:610377
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja...	ORPHA:540
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Senior-Loken Syndrome 1	Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen...	OMIM:266900
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Small for gestational age, Cutis laxa, Anemia, Prema...	ORPHA:79325
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormal hair morphology, Trache...	ORPHA:2591
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal dysplasia, Anemia	OMIM:300990
Rothmund-Thomson Syndrome Type 1	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Small for gestational age, Al...	ORPHA:221008
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Hypergranul...	OMIM:133200
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le...	OMIM:613990
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Atopic dermatitis	OMIM:614262
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis...	OMIM:175100
Necrobiosis Lipoidica	Erythema, Skin ulcer, Abnormality of neutrophil physiology	ORPHA:542592
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Nephrocal...	ORPHA:90041
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Neutrophilic Dermatosis, Acute Febrile	Erythema, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Anemia	OMIM:608068
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa...	ORPHA:2985
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Rothmund-Thomson Syndrome Type 2	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Small for gestational age, Al...	ORPHA:221016
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Drug-Induced Lupus Erythematosus	Hematuria, Thrombocytopenia, Anemia	ORPHA:231111
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Cor pulmonale, Furrowed tongue, Melena, Coarse hair, Nail dystrophy, Foll...	OMIM:158310
Donohue Syndrome	Long penis, Acanthosis nigricans, Cholestasis, Hyperkeratosis, Ovarian cyst, Hepatic fibrosis, Pa...	OMIM:246200
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Mediastinal lymphadenopathy, T...	ORPHA:169105
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Gardner Syndrome	Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic microcytic a...	ORPHA:96123
Werner Syndrome	Sparse scalp hair, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Ovarian neoplasm, Pr...	ORPHA:902
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Elevated c...	OMIM:618805
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Fanconi Anemia, Complementation Group F	Failure to thrive, Hyperpigmentation of the skin, Thrombocytopenia, Renal hypoplasia, Leukopenia,...	OMIM:603467
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab...	ORPHA:85450
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Abnormality of the gastrointestinal tract,...	ORPHA:50918
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ectopic ki...	OMIM:227646
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Restrictive Dermopathy	Dextrocardia, Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ec...	ORPHA:1662
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Failure to thrive, Hypospadias, Hyperpigmented/hypopigmented macules, Premature gra...	OMIM:620331
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Noonan Syndrome 2	Atrial septal defect, Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Cry...	OMIM:605275
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Non-Functioning Pituitary Adenoma	Abnormal hair quantity, Macroorchidism, postpubertal, Hypopituitarism, Decreased response to grow...	ORPHA:91349
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Cirrhosis, Thrombocytop...	OMIM:613987
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Epidermal acanthosis, Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Spars...	OMIM:619980
Cyclic Vomiting Syndrome	Cardiomyopathy, Gastrointestinal dysmotility, Pallor	OMIM:500007
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig...	ORPHA:99867
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anemia, Cystathioninuria, Me...	OMIM:277380
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Ichthyosis, Failure to thrive, Abnormality of the nail	ORPHA:79394
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to...	ORPHA:397596
Kawasaki Disease	Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria, Skin rash,...	ORPHA:2331
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypopl...	ORPHA:1133
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Eosinophilia, High palate, Pulmonic stenosis, Atrial septal defect, Dry skin	OMIM:618282
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Parakeratosis	OMIM:278800
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature grayi...	OMIM:613989
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sp...	OMIM:603553
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function	OMIM:618835
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding	OMIM:619692
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Myoglobinuria, Hepatic steatosis, Red-brown urine	ORPHA:228305
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Anemia	OMIM:620366
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function	OMIM:618839
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor...	ORPHA:562
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Pallor	OMIM:613464
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Abnormal fingernail morphology, Acne, Abnorm...	ORPHA:2796
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Lipoid Proteinosis	Thickened skin, Tongue nodules, Hyperkeratosis, High palate, Dysphagia, Microglossia, Alopecia of...	ORPHA:530
Non-Functioning Paraganglioma	Hypercalcemia, Pallor, Weight loss	ORPHA:94080
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Failure to thrive, Pallor, Mildly elevated creatine kinase	ORPHA:536516
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Toenail dysplasia	OMIM:615907
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Proteinuria, Hypermelanotic macule, Microscopic hematuria, Minimal change glom...	ORPHA:1830
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopeni...	OMIM:619488
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Hypercalciuria, Nephrocalcinosis, Phosphoethanolaminuria, Stillbirt...	OMIM:241500
Mucopolysaccharidosis Type 7	Splenomegaly, Mucopolysacchariduria, Hepatitis, Ascites	ORPHA:584
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Small for gestational age, Alopecia totalis, Elevated circulating crea...	OMIM:618775
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged ne...	ORPHA:423479
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system	ORPHA:2204
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Congenital Factor Ii Deficiency	Microscopic hematuria, Anemia	ORPHA:325
Diabetes Mellitus, Permanent Neonatal, 1	Small for gestational age, Elevated hemoglobin A1c	OMIM:606176
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Abnormality of the lymphatic system, Hydrocele testis, Ovarian serous cystade...	ORPHA:276280
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli...	OMIM:613224
Rothmund-Thomson Syndrome	Calcinosis, Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Small for gestational age, Sp...	ORPHA:2909
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia	OMIM:255125
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Stiff-Person Syndrome	Anemia, Vitiligo	OMIM:184850
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Fanconi Anemia, Complementation Group R	Pelvic kidney, Bone marrow hypocellularity, Anemia	OMIM:617244
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Neonatal Inflammatory Skin And Bowel Disease	Anal fissure, Erythema, Perianal dermatitis, Horizontal eyebrow, Scaling skin, Recurrent gastroen...	ORPHA:294023
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Elevated hemoglobin A1c	OMIM:619278
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul...	ORPHA:157
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy, Renal hypoplas...	OMIM:616541
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Abnormality of the gastrointestinal tract, Skin ulcer	ORPHA:2028
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio...	ORPHA:85451
Immunodeficiency 22	Abscess, Anemia, Ascites, Decreased proportion of CD4-positive helper T cells, Failure to thrive,...	OMIM:615758
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Sparse body hair, Failure to thrive, Decreased testicular size	ORPHA:261483
Chime Syndrome	Ventricular septal defect, Erythema, Pulmonary valve atresia, Skin ulcer, Acute leukemia, Fine ha...	ORPHA:3474
Chilblain Lupus 1	Abnormality of the nail, Skin ulcer	OMIM:610448
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,...	OMIM:115150
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Abn...	ORPHA:538
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Hemoglobinuria	OMIM:266120
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis	OMIM:226700
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of ...	ORPHA:424019
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:177910
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ...	ORPHA:767
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port...	OMIM:619487
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ...	ORPHA:548
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho...	ORPHA:75234
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar...	OMIM:129400
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc...	OMIM:617872
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ...	OMIM:250250
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Acute colitis, Intestinal perforation, Myocarditis, Leukocytosis,...	ORPHA:544482
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ...	OMIM:252920
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Skin ulcer, Coombs-positive hemolytic anemia, Gastr...	ORPHA:464343
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis...	OMIM:615207
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry...	OMIM:619064
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis	OMIM:615022
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Proteinuria, Hypermelanotic macule, Small for gestational age,...	OMIM:242900
Acute Intermittent Porphyria	Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Increased urinary ...	ORPHA:79276
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph...	ORPHA:464
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Kindler Epidermolysis Bullosa	Esophageal stricture, Erythema, Hyperkeratosis, Inflammation of the large intestine, Palmoplantar...	ORPHA:2908
Bronchogenic Cyst	Abnormal esophagus morphology, Pneumonia, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Gastrointestinal inflammation, Palmoplantar keratoderma, Nail dystrophy, Anon...	ORPHA:79409
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H...	OMIM:612541
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Macular purpura, Hep...	ORPHA:49566
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria	OMIM:236130
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Bronchiectasis, Aspiration pneumonia, Neutropenia, Sparse...	OMIM:618253
Muckle-Wells Syndrome	Renal insufficiency, Leukocytosis, Renal amyloidosis	OMIM:191900
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Marburg Hemorrhagic Fever	Reticulocytosis, Renal insufficiency, Jaundice, Neutrophilia in presence of infection, Lymphadeno...	ORPHA:99826
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Failure to thrive, Lipogranulomatosis	OMIM:228000
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Anemia, Conjun...	OMIM:226600
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Thick hair, Splenomegaly, Cirrhos...	OMIM:613489
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Oligodontia-Colorectal Cancer Syndrome	Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer, Breast carcinoma	OMIM:608615
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevated hepatic...	ORPHA:254704
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Thrombocytopenia, Weight loss	ORPHA:79242
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive, Generalized hyperk...	ORPHA:349
Noonan Syndrome 10	Atrial septal defect, Curly hair, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Mitr...	OMIM:616564
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Meige Disease	Lymph node hypoplasia, Cobblestone-like hyperkeratosis, Skin ulcer, Absence of lymph node germina...	ORPHA:90186
Mogs-Cdg	Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Hirsutism, Hepatosplenomegaly, Hydrocele testis,...	ORPHA:79330
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El...	OMIM:235555
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Alveolar Echinococcosis	Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis, Hepatic cysts, ...	ORPHA:284
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, Pro...	ORPHA:91139
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Lactose intolerance, Abnormal proportion of CD8-positive T c...	ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Pemphigus Vulgaris	Weight loss, Acantholysis	ORPHA:704
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron, Overweight, Abnormal heart morphology, Frontal upsweep of hair, Failure to ...	ORPHA:391372
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Acantholysis, Epidermal thickening, Neoplasm of th...	ORPHA:69745
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Profuse pigmented skin lesions	ORPHA:280785
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Abnormal circulating lipid concentration, Abnormality of body weight,...	ORPHA:2298
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Vipoma	Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, Hematochezia, Neoplasm...	ORPHA:97282
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair, Atrial...	OMIM:620075
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing entero...	OMIM:619991
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia,...	ORPHA:90362
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Albinism, Decreased...	OMIM:608233
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Lead Poisoning	Small for gestational age, Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T ce...	ORPHA:330015
Caroli Disease	Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatomeg...	ORPHA:53035
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Alo...	ORPHA:90291
Wolfram Syndrome 2	Gastric ulcer	OMIM:604928
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Mirage Syndrome	Hyponatremia, Petechiae, Patent ductus arteriosus, Hyperkalemia, Anemia, Leukopenia, Decreased bo...	OMIM:617053
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Failure to thrive, Anemia	OMIM:620040
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Gastrointestinal dysmotility, Low...	ORPHA:363705
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Weight loss, Nephr...	ORPHA:29073
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Pallor	OMIM:617023
Eec Syndrome	Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Xerosto...	ORPHA:1896
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Palmoplantar keratoderma, Sparse ...	OMIM:618535
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Enlargement of parotid gland, Subungual hyperkeratotic ...	OMIM:124200
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Weismann-Netter Syndrome	Anemia	ORPHA:3344
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Small for gestational age, Elev...	ORPHA:79332
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo...	OMIM:607426
Congenital Heart Block	Pericardial effusion, Patent foramen ovale, Pallor, Endocardial fibroelastosis	ORPHA:60041
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiat...	OMIM:618541
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:230900
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy	ORPHA:52417
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Erythema, Dry skin...	ORPHA:37
Immunodeficiency, Common Variable, 6	Hepatomegaly, Purpura, Enlarged kidney, Autoimmune thrombocytopenia	OMIM:613496
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, High palate, Failure to thrive	ORPHA:50812
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,...	ORPHA:69076
Riddle Syndrome	Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Erythema, Weig...	ORPHA:420741
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Decreased body ...	ORPHA:1667
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Flynn-Aird Syndrome	Cachexia, Alopecia, Skin ulcer	ORPHA:2047
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Thickened skin, Weight loss...	ORPHA:79430
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia	ORPHA:67
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Bloody diar...	OMIM:175200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Hydrocele testis, Coa...	OMIM:605309
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Redundant neck skin, Ventricular septal defect, Thyroid lymphangiectasia, Splenomeg...	OMIM:235255
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Cryptorchidism, Cutis laxa, High palate, Ichthyosis, Sp...	OMIM:613075
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Left ventricular hypertrophy...	OMIM:301500
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism	ORPHA:2221
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Leprechaunism	Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Thickened skin, Rectal prolapse, Megarectu...	ORPHA:508
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia, Nail d...	OMIM:612199
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cachexia, High, narrow palate, Cleft palate, Thin eyebro...	ORPHA:3242
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ...	ORPHA:324964
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Submuco...	OMIM:275210
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Renal amyloidosis	OMIM:120100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Hawkinsinuria	4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ...	ORPHA:2118
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Small for gestational age, Mic...	ORPHA:2959
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Failure to thrive, Thrombocytopenia	OMIM:251290
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul...	OMIM:619644
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Filippi Syndrome	Ventricular septal defect, Cryptorchidism, Decreased body weight, Sparse hair, Frontal hirsutism,...	OMIM:272440
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp...	ORPHA:509
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Cleft palate, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin	OMIM:601701
Acrogeria	Excessive wrinkled skin, Skin ulcer, Fine hair	ORPHA:2500
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ...	ORPHA:486
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Increa...	OMIM:612562
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Cachexia, Abnormality of the spleen, Splenomegaly, Aort...	ORPHA:2072
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Fetal ascites	OMIM:620014
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Abnormal epidermal morphology	ORPHA:398189
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te...	OMIM:615280
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pallor, Hyperuricemia, Hyperalaninemia, Hepatic stea...	ORPHA:348
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Whipple Disease	Hepatomegaly, Generalized hyperpigmentation, Cachexia, Splenomegaly, Mediastinal lymphadenopathy,...	ORPHA:3452
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Hepatic hemangioma, Multiple re...	OMIM:193300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Failure to thrive in infancy, Microves...	OMIM:619418
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyper...	OMIM:620358
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Oral leukoplakia	OMIM:615735
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort...	ORPHA:3099
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Dilated ...	ORPHA:261250
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Abnormal fingernail morphology, Severe peri...	ORPHA:678
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Malabsorption, Thickened skin, Skin ulcer, Polycystic ...	ORPHA:2176
Menkes Disease	Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Cutis laxa, Sparse hair	OMIM:309400
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Epididymitis, Abnormality of the lympha...	ORPHA:2035
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Recurrent urinary tract infections, Decreased body weight	ORPHA:51890
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrhosis, Gastrointestinal in...	ORPHA:186
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Furrowed tongue, Hyperkeratosis,...	OMIM:148210
Hajdu-Cheney Syndrome	Hepatomegaly, Failure to thrive, Mitral stenosis, Ventricular septal defect, Abnormal fingernail ...	ORPHA:955
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Pyoderma Gangrenosum	Skin vesicle, Myeloid leukemia, Skin ulcer, Inflammation of the large intestine	ORPHA:48104
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo...	OMIM:300400
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Myopathy, Mitochondrial, And Ataxia	Elevated circulating creatine kinase concentration, Thick hair, High palate, Pallor, Increased ci...	OMIM:617675
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Cryptorchidism, Obesity, Sparse hair, Micropenis, Hydron...	OMIM:619185
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Bilateral cleft lip and ...	ORPHA:3253
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Alopecia, Increased mean platelet volume	OMIM:617443
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Abno...	ORPHA:2348
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411515
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Salivary gland neoplasm, Skin ulcer, Abnormality of the submandibular gl...	ORPHA:79493
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythema, Multiple g...	OMIM:225750
Dracunculiasis	Skin ulcer	ORPHA:231
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Ventricular septal defect, Splenomegaly, Pancreatic lymphangie...	ORPHA:1655
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	OMIM:256040
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis	OMIM:610227
Fabry Disease	Abnormal endocardium morphology, Abnormal circulating lipid concentration, Malabsorption, Hyperli...	ORPHA:324
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, White hair, Lymphopenia, Anemia	ORPHA:935
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia, Abnormal hair morphology, Paronychia, Skin ulcer, Cleft palate, Skin vesicle, Dystr...	ORPHA:2314
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Thrombocytopenia, Leukopenia, Ascites, Hypoproteinemia...	ORPHA:99828
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Proteinuria, Abnormal cardiac ventricle m...	ORPHA:85443
Systemic Capillary Leak Syndrome	Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule mor...	ORPHA:188
Dravet Syndrome	Pallor	ORPHA:33069
Heyn-Sproul-Jackson Syndrome	Sparse hair, Decreased body weight	OMIM:618724
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma, Weight loss, Pallor	ORPHA:276621
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Refsum Disease	Splenomegaly, Cardiomyopathy, Nail dysplasia, Ichthyosis, Dry skin	ORPHA:773
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla...	ORPHA:202
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Abnormal fingernail morph...	ORPHA:79500
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Generalized hirsutism, Polycystic ovaries, Hype...	ORPHA:79083
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Ventricular septal defect, Large for gestational age, Cryptorchidi...	OMIM:607721
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Alopecia, Esophageal ulceration, Thickened skin, Eso...	ORPHA:99921
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia, Low anterior hairline, Low posterior ha...	ORPHA:528
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Hyperkeratosis, Colitis, Frontal upsweep of hair, Broad eyebrow	OMIM:301220
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Hematemesis, Thro...	ORPHA:906
Buerger Disease	Skin ulcer	ORPHA:36258
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Gastric ulcer, Constipation, Anemia	ORPHA:3463
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Low anterio...	OMIM:618440
Fucosidosis	Hepatomegaly, Failure to thrive, Thick eyebrow, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte...	OMIM:230000
Ullrich Congenital Muscular Dystrophy 1	High palate, Follicular hyperkeratosis, Failure to thrive, Slender build, Mildly elevated creatin...	OMIM:254090
Blau Syndrome	Pericarditis, Splenomegaly, Erythema, Xerostomia, Skin ulcer, Lymphadenopathy, Abnormality of the...	ORPHA:90340
Bresek Syndrome	Alopecia, Aganglionic megacolon, Cryptorchidism, Cleft palate, Ichthyosis, Decreased testicular size	ORPHA:85284
Hamamy Syndrome	Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Complete atrioventricula...	OMIM:611174
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Ascites, Hyperalan...	OMIM:614702
Cone-Rod Dystrophy 8	Abnormality of retinal pigmentation, Pallor	OMIM:605549
Severe Hemophilia A	Anemia, Macroscopic hematuria	ORPHA:169802
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Erythema, Low anterior h...	ORPHA:99812
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Thick hair, Heparan sulfate excretion in urine, Thrombocytopenia, Thickened skin, En...	ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Urachal Cyst	Abdominal mass, Dysuria, Abscess, Pyuria, Leukocytosis, Peritonitis, Urachus fistula, Hematuria	ORPHA:488
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Splenomegaly, Cry...	OMIM:613563
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormal hemoglobin, Abnormality of the ...	ORPHA:847
Esophageal Atresia	Barrett esophagus, Small for gestational age, Ventricular septal defect, Failure to thrive in inf...	ORPHA:1199
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Relapsing Polychondritis	Abnormal endocardium morphology, Episcleritis, Pericarditis, Alopecia, Renal insufficiency, Prote...	ORPHA:728
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Alopecia, Alopecia totalis, Decreased ...	ORPHA:293978
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan...	ORPHA:167
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Subvalvular aortic stenosis, Sparse hair,...	OMIM:280000
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Renal hypoplasia, Atopic dermatitis, Spa...	OMIM:616854
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Abnormal platelet granules, Albinism	OMIM:614075
Colchicine Poisoning	Hyponatremia, Alopecia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphat...	ORPHA:31824
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Alopecia, Lack of skin elastic...	ORPHA:79474
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pelvic mass, Jaundice, Weight loss, Ascites, Pancreatitis, Anemia	ORPHA:370348
Intellectual Developmental Disorder, Autosomal Recessive 5	Small for gestational age, Eczema, Synophrys, Sparse hair, Increased circulating lactate dehydrog...	OMIM:611091
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia	ORPHA:892
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ...	OMIM:619472
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Chronic gastritis, Recurrent pneumonia, Osteoma, Rib exostoses, Gastroesophageal ...	OMIM:150230
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Lymphadenopathy, Hepato...	ORPHA:85408
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Cryptorchidism, Mitral valve prolapse, Low posterior hairline, Pulmon...	OMIM:619745
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Dilated card...	ORPHA:367
Calciphylaxis	Hyperphosphatemia, Secondary hyperparathyroidism, Skin ulcer	ORPHA:280062
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Necrotizing Enterocolitis	Small for gestational age, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia, Ichthyosis	OMIM:618840
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial se...	OMIM:618652
Leigh Syndrome	Failure to thrive, Alopecia, Ventricular septal defect, Frontal hirsutism, Gastrointestinal dysmo...	ORPHA:506
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Cachexia, ...	ORPHA:275761
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Senior-Loken Syndrome 8	Pancreatic cysts, Hepatic cysts, Pallor, Intrahepatic bile duct dilatation	OMIM:616307
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair...	ORPHA:217346
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Giant Cell Arteritis	Glossitis, Pericarditis, Alopecia, Mediastinal lymphadenopathy, Skin ulcer, Weight loss, Gastroin...	ORPHA:397
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Skin ulcer, Dysphagia	ORPHA:220402
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Mirizzi Syndrome	Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus chole...	ORPHA:521219
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi...	OMIM:619743
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Pericarditis, Alopecia, Elevated circulating creatine ki...	ORPHA:93672
Aredyld	Generalized hypotrichosis	OMIM:207780
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Cardiomyopathy, Hyperglycinemia...	OMIM:251000
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Failure to thrive, Thin skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o...	OMIM:617099
Parkes Weber Syndrome	Abnormal B-type natriuretic peptide concentration, Scaling skin, Skin ulcer, Abnormal lymphatic v...	ORPHA:90307
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Neonatal death, Intrahepatic bile duct dilatation, Hepatomegaly, Portal hyperte...	OMIM:619534
Pyomyositis	Renal insufficiency, Leukocytosis, Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Shigellosis	Failure to thrive in infancy, Abscess, Hemolytic-uremic syndrome, Leukocytosis, Peritonitis, Uret...	ORPHA:810
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ...	OMIM:612132
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Neoplasm of the small intestine, Ascites, Elevated circulati...	ORPHA:97283
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:608779
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Reticular hyperpigmentation, Hepati...	OMIM:224230
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Acanthosis nigricans, Elevated hepatic transaminase, Polycystic ovaries	OMIM:268020
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ...	ORPHA:978
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Failure to thrive, Multiple cafe-au-lait spots	ORPHA:100
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Hyperc...	ORPHA:363618
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Hirsutism, Increased body weight, Hyper...	ORPHA:189427
Papa Syndrome	Crohn's disease, Skin ulcer, Lymphadenopathy	ORPHA:69126
Xeroderma Pigmentosum	Failure to thrive, Alopecia, Thickened skin, Cryptorchidism, Erythema, Hyperkeratosis, Dry skin, ...	ORPHA:910
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Thin skin, Trichodysplasia, Toenail dysplasia, Sparse bo...	ORPHA:1660
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem...	OMIM:619525
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Proteinuria, Elevated he...	OMIM:619127
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline, Mitral valve prolapse	ORPHA:2183
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Failure to thrive, Elevated circulating C-reactive protein concentration, Hypochrom...	OMIM:619423
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Trichiasis, Acantholysis, Oral-pharyngeal dysphagia, Intestinal pe...	ORPHA:95455
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal...	ORPHA:85448
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Cardiocranial Syndrome, Pfeiffer Type	Hypospadias, Abnormal hair whorl, Cryptorchidism, Abnormal heart morphology, Sparse hair, Micropenis	ORPHA:2872
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor, Dysphagia	ORPHA:13
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morp...	ORPHA:2457
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card...	OMIM:201475
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Abnormality of the anterior pituitary, Coarse ...	ORPHA:75389
Nodular Non-Suppurative Panniculitis	Weight loss, Splenomegaly, Erythema, Hepatomegaly	ORPHA:33577
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma, Weight loss, Pallor	ORPHA:29072
Biotinidase Deficiency	Splenomegaly, Alopecia, Hyperammonemia, Hepatomegaly	OMIM:253260
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Sc...	ORPHA:3464
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Lelis Syndrome	Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Nail dys...	ORPHA:140936
Milroy Disease	Hydrocele testis, Hyperkeratosis, Toenail dysplasia	ORPHA:79452
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia, Ascites	OMIM:253250
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi...	ORPHA:415
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sm...	OMIM:610644
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Dysphagia, Hir...	OMIM:252930
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyela...	OMIM:106260
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyperke...	ORPHA:2907
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Gand Syndrome	Sparse hair	OMIM:615074
Cartilage-Hair Hypoplasia	Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Cardiomyopathy, Abnormal cardiac septu...	ORPHA:175
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M...	OMIM:301040
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides, Obesity	OMIM:614613
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abnormal tongue morphology, Cer...	ORPHA:653
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Oculocutaneous Albinism Type 1A	Albinism, Hyperkeratosis, Hypopigmentation of hair, Thickened skin	ORPHA:79431
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati...	ORPHA:400
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste...	ORPHA:69735
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Elevated circulating C-reactive protein concentration, Rectal abscess, Skin ulcer	OMIM:116920
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Sparse facial hair, Sparse axillary hair, Failure to thrive, Slender b...	OMIM:608154
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hepatomegaly, Anemia	OMIM:612301
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Nocturia, Anemia	ORPHA:230
Cantu Syndrome	Bicuspid aortic valve, Curly eyelashes, Large for gestational age, Pericardial effusion, Cardiome...	OMIM:239850
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Hypoplastic toenails, Splenomegaly, Esophageal va...	OMIM:616589
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Decrea...	OMIM:305000
Hereditary Chronic Pancreatitis	Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice	ORPHA:676
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Cryptorchidism, Small nail...	ORPHA:166035
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis	OMIM:616069
Goodpasture Syndrome	Pallor, Increased blood urea nitrogen, Anemia, Weight loss	OMIM:233450
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Alopecia, Patent foramen ovale	ORPHA:88630
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Fine hair, Mitral valve prolapse, Sparse hair	OMIM:615278
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Camurati-Engelmann Disease	Slender build, Bone marrow hypocellularity, Anemia	OMIM:131300
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Broad eyebrow, Neutrophilia, Small for gestational age, Microcytic anemia, Protrudi...	ORPHA:99843
Refsum Disease, Classic	Ichthyosis, Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly	OMIM:266500
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Abnormal heart morphology, Nail dystr...	ORPHA:1867
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Microscop...	ORPHA:319213
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Hyperconvex nail, Eczema, Hypoplastic left heart, Sparse hair, Atrial sept...	OMIM:619721
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Neutropenia	OMIM:617050
Pemphigus Erythematosus	Acantholysis	ORPHA:79480
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C...	OMIM:602782
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Elevated circulating growth hormone concentrati...	ORPHA:91347
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anal fissure, Abnormal circulating selenium concentration, Dilated cardiomyopathy, Gastrointestin...	ORPHA:79408
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Mycetoma	Cobblestone-like hyperkeratosis, Abdominal mass, Pelvic mass, Abnormality of the lymphatic system	ORPHA:2583
Dystonia-Aphonia Syndrome	Abnormal urinary odor	ORPHA:412217
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Williams Syndrome	Bicuspid aortic valve, Redundant skin, Elevated circulating creatine kinase concentration, Cardio...	ORPHA:904
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries, Pallor, ...	ORPHA:137675
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Scarf Syndrome	Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Perineal hypospadias, Hypoplastic...	ORPHA:3134
Fusariosis	Abnormality of the spleen, Peritonitis, Paronychia, Skin ulcer, Abnormality of the liver, Neutrop...	ORPHA:228119
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Cryptorchidism, Renal hypoplasia, Fine hair, Sparse hair	OMIM:616817
Bazex-Dupre-Christol Syndrome	Eczema, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Acne inversa, Pili torti,...	OMIM:301845
Ifap Syndrome 2	Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti...	OMIM:619016
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Thrombocytopenia	OMIM:253270
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Hyperlipidemia, High palate, Acanthosis ni...	OMIM:248370
Revesz Syndrome	Aplastic anemia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, ...	OMIM:268130
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Tetralogy of Fallot, Cleft palate, Sparse hair, Failu...	ORPHA:2316
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Hirsutism	OMIM:252900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Ventricular septal defect, Sparse eyelashes, Concave nail, Abnormality of hair text...	OMIM:234050
Attrv30M Amyloidosis	Cardiomyopathy, Weight loss, Cardiomegaly	ORPHA:85447
Satoyoshi Syndrome	Alopecia, Mildly elevated creatine kinase, Alopecia universalis, Malabsorption	OMIM:600705
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Sparse eyelashes, Cholangitis, ...	OMIM:613610
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Cleft palate	OMIM:164180
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Failure to thrive	ORPHA:70472
Prolactinoma	Abnormal hair quantity, Elevated circulating growth hormone concentration, Adrenocorticotropic ho...	ORPHA:2965
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Nail dysplasia, Polycysti...	OMIM:614091
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, High, narrow palate, Hy...	OMIM:230740
Dermatoosteolysis, Kirghizian Type	Dystrophic toenail, Dystrophic fingernails, Abnormality of the nail, Skin ulcer	ORPHA:1657
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Generalized hirsutism, Long eyelashes in irregular rows, ...	ORPHA:2963
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Secundum atrial septal defect, Thrombocytopenia, Asc...	OMIM:617397
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ...	OMIM:300953
Pancreatic And Cerebellar Agenesis	Failure to thrive, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Coarse hair, Ichthyosis, Thick eyebrow	ORPHA:585
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Calcinosis, Splenomegal...	OMIM:613471
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Bethlem Myopathy	Hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:610
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive, Oral leuko...	OMIM:616353
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Hypoplastic toenails, Esophageal varix, Abse...	OMIM:616028
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, High nonceruloplasmin-bound serum...	ORPHA:457351
Squalene Synthase Deficiency	Elbow flexion contracture, Failure to thrive in infancy, Abnormality of hair pigmentation, Knee f...	OMIM:618156
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Dry sk...	ORPHA:428
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Tay-Sachs Disease	Pallor	OMIM:272800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Hurler-Scheie Syndrome	Splenomegaly, Thickened skin, Hirsutism, Hepatomegaly	OMIM:607015
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism	OMIM:273390
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hyperparathyroidism, Hypoammonemia, Malabsorption, Thrombocytope...	ORPHA:534
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia, Weight loss	ORPHA:3163
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Sarcoidosis	Abnormality of the gastrointestinal tract, Hemolytic anemia, Hepatomegaly, Alopecia, Parotitis, E...	ORPHA:797
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Large for gestational age, Splenomegaly, Abnorm...	ORPHA:116
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Hepatomegaly, Failure to thrive, Sea-blue histiocytosis	OMIM:230600
Generalized Pustular Psoriasis	Renal insufficiency, Overweight, Leukocytosis, Obesity, Lymphopenia	ORPHA:247353
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased body weight, Sp...	ORPHA:391408
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Oral-pharyngeal dysphagia, Gastrointestinal dysmotilit...	ORPHA:2131
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma, Multinodular goiter, Adenocarcinoma of the colon	OMIM:620189
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Lack of skin elasticity,...	ORPHA:90153
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Gastrointestinal stroma tum...	ORPHA:221
Ruijs-Aalfs Syndrome	Premature graying of hair, Decreased body weight, Sparse hair, Hepatocellular carcinoma	OMIM:616200
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Brittle hair, Increased iduronate sulfatase level, Cardiomegaly, Sparse eyebrow, Sp...	OMIM:252500
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Hyperkeratosis, Dysphagia, High anterior hairline, Achalasia	OMIM:615510
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre...	ORPHA:2538
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Kury-Isidor Syndrome	High palate, Alopecia, Ventricular septal defect, Hypertrichosis	OMIM:619762
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Steatorrhea, High palate, Neutropenia, Hypere...	OMIM:617941
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic kidney disea...	OMIM:249100
Down Syndrome	Sparse hair, Abnormality of the lymphatic system, Obesity, Acute megakaryocytic leukemia	ORPHA:870
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Alopecia, Ichthyosis	OMIM:163200
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ...	OMIM:300855
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Small for gestational age, Cryptorchidism, Increased circulating gonad...	OMIM:300869
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Hemorrhagic Fever-Renal Syndrome	Decreased body weight, Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney dise...	ORPHA:340
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Sparse hair, Failure to thrive	OMIM:601812
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Abnormal eyelash morphology, Ab...	ORPHA:2273
Desbuquois Syndrome	Sparse hair, Ventricular septal defect, Abnormal eyelash morphology	ORPHA:1425
2Q32Q33 Microdeletion Syndrome	Sparse hair, Decreased testicular size, Fine hair	ORPHA:251019
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi...	OMIM:129900
Cushing Disease	Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Hirsu...	ORPHA:96253
Gomez-Lopez-Hernandez Syndrome	Alopecia, High palate, Decreased response to growth hormone stimulation test	OMIM:601853
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Secondary hyperparathyroidism, Hypophosphatemia, Failure to thrive, Alopec...	OMIM:277440
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m...	ORPHA:512
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Failure to thrive, Ventricular septal defect, Sparse eyelashes, Sparse eyebrow...	OMIM:210710
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Cryptorchidism, Failure to thrive, Thin skin	OMIM:219150
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Sparse eyebrow, Dry skin,...	OMIM:614008
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Pancytopenia, Small for gestational age, Portal...	OMIM:613658
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla...	ORPHA:544488
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Dilated cardiomyopathy, Esophageal stricture, Abnormal blood ion concentrat...	ORPHA:79404
Hsd10 Disease, Infantile Type	Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy	ORPHA:391428
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Abnormality of skin pigmentation, Mastocytosis, Irregular hyperpig...	ORPHA:2135
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Zinc Deficiency, Transient Neonatal	Alopecia, Decreased serum zinc	OMIM:608118
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Genera...	ORPHA:280365
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Micropenis, Cafe-au-lai...	OMIM:614083
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries, Truncal obesity, Sparse hair, High anterior hairline	ORPHA:284180
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Anal stenosis, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair...	OMIM:604292
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Intestinal obstruction, Elevated circulating C-reactiv...	ORPHA:900
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c...	ORPHA:57777
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Low alkaline phosphatase	OMIM:619985
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Peritonitis, Erythema, Skin ulcer, Gastrointestinal in...	ORPHA:727
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypopigmentation of the ...	OMIM:219800
Reactive Arthritis	Pericarditis, Weight loss, Hyperkeratosis, Inflammation of the large intestine, Dystrophic finger...	ORPHA:29207
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Slender build, Anemia	ORPHA:1328
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Bicuspid aortic valve, Cleft palate, Glossoptosis	OMIM:616367
Chronic Actinic Dermatitis	Epidermal acanthosis	ORPHA:330064
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoproteinemia, Ventricular septal defect, Small fo...	ORPHA:26793
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t...	OMIM:615415
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating C-reactive protein concentration, H...	ORPHA:97214
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Small pituitary gland	OMIM:612079
Granulomatosis With Polyangiitis	Granulomatosis, Skin ulcer, Weight loss	OMIM:608710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Pachyonychia Congenita 3	Plantar hyperkeratosis, Onychogryposis of toenails, Furrowed tongue, Palmoplantar keratoderma, Na...	OMIM:615726
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Monosomy 18P	Alopecia, Cleft palate, Low posterior hairline	ORPHA:1598
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic ca...	OMIM:616897
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Pancreatitis, Dysphagia	ORPHA:412057
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Sandhoff Disease	Macroglossia, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia	ORPHA:93325
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic no...	ORPHA:100075
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hypoplasia of the small int...	OMIM:200995
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age, Decreased ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age, Decreased ...	ORPHA:363958
Cog2-Cdg	Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c...	ORPHA:435934
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Mucopolysaccharidosis Type 3	Hepatomegaly, Thick hair, Cardiomegaly, Malabsorption, Splenomegaly, Synophrys, Adenoiditis, Recu...	ORPHA:581
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Alopecia, Supernumerary nipple	ORPHA:3224
Chromosome 5P13 Duplication Syndrome	Sparse hair, Small for gestational age, Vesicoureteral reflux, Low posterior hairline	OMIM:613174
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Brittle Cornea Syndrome 1	Red hair, Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis, Hypopigmented skin patches	ORPHA:53715
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Obesity, Sparse body hair, Decreased testicular size	ORPHA:2234
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Failure to thrive	OMIM:620001
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Cockayne Syndrome B	Hepatomegaly, Dry hair, Renal insufficiency, Small for gestational age, Proteinuria, Abnormal hai...	OMIM:133540
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Hypospadias, Sparse eyebrow, Cryptorchidism, Abnormal cardiac septum morphology...	OMIM:613026
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Increased body weight, Hirsutism	OMIM:615830
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ...	OMIM:268400
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Long uvula, Hypertriglyceridemia, Redundant skin, Pericardial effusion, Cryptorchidism,...	ORPHA:536532
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Thin nail, Eczema, Urinary retention, Neutropenia, Sparse hair	OMIM:617799
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Congenital Short Bowel Syndrome	Sparse hair, Displacement of the urethral meatus	ORPHA:2301
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, ...	OMIM:617506
Diffuse Cutaneous Systemic Sclerosis	Malabsorption, Xerostomia, Skin ulcer, Gastroesophageal reflux, Dysphagia	ORPHA:220393
Autoimmune Polyendocrinopathy Type 2	Celiac disease, Alopecia, Hypoparathyroidism	ORPHA:3143
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Micropenis, Small for gestational age	OMIM:610756
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Cryptorchidism, Truncal obesity, Sparse hair, Decreased testicular size, Thi...	ORPHA:127
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Occipital Horn Syndrome	Thick hair, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Coarse hair, Esophagitis	ORPHA:198
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Small for gestational age, Sparse eyelashes, Hypertr...	OMIM:264090
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive	OMIM:617988
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Acanthosis nigricans, Hepatic steatosis	ORPHA:79085
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Hamartoma of tongue, Pancreatic cysts, Abn...	ORPHA:2750
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Hype...	ORPHA:97278
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Cardiomegaly	ORPHA:79280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Abdominal obesity, Hypoplasia ...	OMIM:619321
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411511
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Anal stenosis, Alopecia totalis, Absent eyelashes, B...	OMIM:263650
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Psoriasiform lesion	ORPHA:85436
Grfoma	Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ...	ORPHA:97261
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Cardiomyopathy, Cirrh...	ORPHA:79086
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Fine hair	ORPHA:228390
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Increased red blood cell count, Skin ulcer	ORPHA:68
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ...	OMIM:614105
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm ...	ORPHA:424016
Plague	Hepatomegaly, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditis, Skin ulcer, ...	ORPHA:707
Ramon Syndrome	Hyperkeratosis, Hypertrichosis, Narrow palate, Decreased body weight	OMIM:266270
Focal Dermal Hypoplasia	Acute hepatic failure, Alopecia, Ventricular septal defect, Erythema, Abnormal cardiac septum mor...	ORPHA:2092
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Dubowitz Syndrome	Hypospadias, Abnormality of neutrophils, Abnormality of skin pigmentation, Acute lymphoblastic le...	ORPHA:235
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Orch...	ORPHA:32960
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urinary bladder inflammation, Recurrent skin infections, Congenital pyloric atresia, Intestinal a...	ORPHA:79403
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Hyperlipidemia, High palate, Sparse hair	OMIM:608612
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Obesity	OMIM:609734
Cockayne Syndrome A	Hepatomegaly, Dry hair, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Thymic ho...	OMIM:216400
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Immunodeficiency, Common Variable, 10	Trachyonychia, Frequent Giardia lamblia infestation, Alopecia totalis, Decreased response to grow...	OMIM:615577
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly	OMIM:613320
Cowden Syndrome	Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar...	ORPHA:201
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Cleft palate, Cutis laxa, Mitral valve prolapse, Low posteri...	OMIM:245600
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ...	OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Cryptorchidism, Abnormali...	ORPHA:438213
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Cohen Syndrome	Abnormality of retinal pigmentation, Failure to thrive in infancy, Obesity, Abnormality of skin p...	ORPHA:193
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Keutel Syndrome	Alopecia, Ventricular septal defect	ORPHA:85202
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela...	OMIM:305100
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H...	OMIM:614941
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Cirrhosis, Nephronophthisis, S...	OMIM:614099
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:536
Orofaciodigital Syndrome I	Dry hair, Alopecia, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morpholog...	OMIM:311200
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lympha...	ORPHA:51
Cranioectodermal Dysplasia 1	Hepatomegaly, Bicuspid aortic valve, Thin nail, Malformation of the hepatic ductal plate, Short n...	OMIM:218330
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss	ORPHA:1332
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,...	OMIM:190350
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology	ORPHA:3453
Oculodentodigital Dysplasia	Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Ventricular septal ...	ORPHA:2710
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Protruding tongue, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morphology, H...	ORPHA:2463
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
6Q Terminal Deletion Syndrome	Highly arched eyebrow, High, narrow palate, Low anterior hairline, Obesity, Hyperkeratosis, Failu...	ORPHA:75857
Hennekam Syndrome	Sparse axillary hair, Malabsorption, Pericardial effusion, Splenomegaly, Pyloric stenosis, Pulmon...	ORPHA:2136
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Sparse hair, Small nail, ...	OMIM:620186
Adrenoleukodystrophy	Elevated circulating long chain fatty acid concentration, Alopecia	OMIM:300100
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Recurrent pneumonia, Sparse hair, Atrial septal defect, H...	OMIM:616449
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Cleft hard palate, Cleft palate, Bilateral breast hypopl...	ORPHA:69085
Ane Syndrome	Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R...	ORPHA:157954
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Abnormal fingernail morphology	ORPHA:1647
Cantú Syndrome	Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster...	ORPHA:1517
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes...	OMIM:615485
Costello Syndrome	Deep-set nails, Curly hair, Renal insufficiency, Ventricular septal defect, Thin nail, Concave na...	OMIM:218040
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous...	ORPHA:95430
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Testicular adrenal rest tumor, Polycystic ovaries, Hypokalemia, Hirsutism, Decreased ci...	ORPHA:90795
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebr...	ORPHA:1071
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Hyperammonemia, Hyperleucinemia, Failure to thrive	OMIM:210210
Mosaic Trisomy 9	Asplenia, Patent ductus arteriosus, Abnormal liver lobulation	ORPHA:99776
Malakoplakia	Follicular hyperplasia, Orchitis, Skin ulcer, Neoplasm of the rectum, Neoplasm of the colon	ORPHA:556
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card...	OMIM:620306
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Cardiac ...	OMIM:181270
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Malabsorption, Orchitis, Splenomegal...	ORPHA:342
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Ventricular septal defect, Long eyelashes, Sparse hair, Failure to thrive, Hirsutism	OMIM:212066
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia	OMIM:175050
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abnormal circulating copper c...	ORPHA:521411
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Localized Scleroderma	Abnormal skin adnexa morphology, Thickened skin, Erythema, Patchy alopecia, Gastroesophageal refl...	ORPHA:90289
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Aminoaciduria, Hypoplastic nipples, Small nail	OMIM:273400
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Sparse medial eyebrow, Cryptorchidism, Low a...	OMIM:601358
Scarf Syndrome	Cryptorchidism, Low anterior hairline, Low posterior hairline, Perineal hypospadias, Hypoplastic ...	OMIM:312830
Hurler Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Abnormality of skin pigmentation, Mucopol...	ORPHA:93473
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ...	ORPHA:125
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dystrophic ...	OMIM:150400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Excessive wrinkled skin, Gastrointestinal hemorrhage, Follicular hyperke...	OMIM:225400
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:98794
White-Sutton Syndrome	Obesity, Sparse hair, Atrial septal defect, Failure to thrive, Patent foramen ovale	OMIM:616364
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Renal cyst, Horseshoe kidney, Small ...	OMIM:250410
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Cleft palate, Sparse or absent eyelashes, Aplasia/Hypopla...	ORPHA:1234
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Mitral valve prolapse, Cutis laxa, Civatte bodies, Restrictive cardi...	OMIM:264800
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p...	ORPHA:2232
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, High, narrow palate, Cry...	ORPHA:2108
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Sparse hair, Transposition of the great arteries	OMIM:619910
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Hypospadias, Fine hair, Ch...	OMIM:618891
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Furrowed tongue, Patchy alopecia, High palate, Decreased body weight, Cholelithia...	OMIM:300534
Brittle Cornea Syndrome	Corneal scarring, Abnormality of hair pigmentation, Hernia, Camptodactyly	ORPHA:90354
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia, Sparse hair, Thrombocytopenia	ORPHA:3103
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy	ORPHA:90154
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Anterior pituitary hypoplasia	ORPHA:453533
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Ecchymosis, Hepato...	ORPHA:99827
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Ventricular septal defect, Decreased response to growth hormone stimul...	OMIM:614114
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Mitral valve prolapse, Fine hair, Spar...	ORPHA:444072
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, ...	ORPHA:881
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Highly arched eyebrow, Cardiomegaly, Cryptorchidism, Macroglossia	OMIM:618143
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Thickened skin, Bladder diverticulum, Prolonged neonatal...	ORPHA:565
Proteus Syndrome	Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Thickene...	ORPHA:744
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Small for gestational age, Hypospadias, Cryptorchidism, Urolithiasis, Gout, ...	OMIM:300661
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Atrial sep...	OMIM:243800
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect, Cryptorchidism, Fine hair, Sparse hair, Micropenis, Decreased testicul...	ORPHA:251028
Marshall-Smith Syndrome	Brittle hair, Ventricular septal defect, Highly arched eyebrow, Bilateral cryptorchidism, Cryptor...	OMIM:602535
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Sparse eyebrow, Sparse hair, Thin skin, Atrial septal defect, Failure ...	OMIM:244450
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Autosomal Recessive Robinow Syndrome	Alopecia, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Bifid t...	ORPHA:1507
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Gastroesophageal reflux, Acral ulceration	OMIM:201300
Encephalocraniocutaneous Lipomatosis	Alopecia, Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal d...	OMIM:613001
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Cryptorchidism, Thin skin, Fine hair	OMIM:614438
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Low anter...	OMIM:272950
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair	OMIM:257850
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair	OMIM:613451
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Acral ulceration	OMIM:256840
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
De Barsy Syndrome	Ventricular septal defect, Cryptorchidism, Thin skin, Sparse hair, Failure to thrive	ORPHA:2962
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,...	ORPHA:3455
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Small for gestational age, Polyuria, Acanthosis nigricans, Recurrent pancreati...	OMIM:606721
Glass Syndrome	Sparse hair, Long eyelashes, Thin skin, Nail dysplasia	OMIM:612313
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Orchitis, Erythema, Skin ulcer, Gastrointestinal infarctions, Purpura	ORPHA:761
Okamoto Syndrome	Facial hypertrichosis, Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Vent...	ORPHA:2729
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cryptorchidism, R...	OMIM:234100
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Ichthyosis, High palat...	OMIM:300868
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture	ORPHA:96169
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Failure to thrive, Thick hair	ORPHA:357074
Bohring-Opitz Syndrome	Cardiomegaly, Synophrys, Cleft palate, Abnormal cardiac septum morphology, Severe failure to thri...	ORPHA:97297
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Slc39A8-Cdg	Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration, Failure to thrive ...	ORPHA:468699
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re...	OMIM:304150
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Cryptorchidism, Low an...	OMIM:608156
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Biliary cirrhosis, Hepatospl...	OMIM:219700
Myhre Syndrome	Ventricular septal defect, Small for gestational age, Pericardial effusion, Thickened skin, Crypt...	OMIM:139210
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Small for gestational age, Nail dysplasia, Small nail, Sparse hair, Failure to thrive, Breast hyp...	OMIM:614813
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Mitral stenosis, Alopecia to...	ORPHA:740
Warburg-Cinotti Syndrome	Erythema, High palate, Follicular hyperkeratosis	OMIM:618175
African Trypanosomiasis	Hepatomegaly, Pericarditis, Alopecia, Myocarditis, Splenomegaly, Jaundice, Hepatosplenomegaly, We...	ORPHA:3385
Yunis-Varon Syndrome	Sparse scalp hair, Redundant neck skin, Ventricular septal defect, Sparse eyelashes, Cardiomegaly...	ORPHA:3472
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Alopecia, Intestinal pseudo-obstruction, Decreased response to gro...	ORPHA:273
Distal Deletion 19P	Alopecia, Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Pulmonary valve atre...	ORPHA:96129
Marshall Syndrome	Sparse hair, Osteoarthritis, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Obesity, Abdominal obesity, Failure to thrive, Hypopigmentation of the ...	ORPHA:398079
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Synophrys, High palate, Follicular hyperkeratosis	ORPHA:536545
Prader-Willi Syndrome	Hypopigmentation of hair, Failure to thrive in infancy, Obesity, Abdominal obesity, Frontal upswe...	OMIM:176270
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Congenital pyloric atresia	ORPHA:158684
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:365
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Eczema, Synophrys, Sparse hair, Toenail dysplasia, Chronic otitis media, Hirsutism	OMIM:300966
Oculodentodigital Dysplasia	Dry hair, Neurogenic bladder, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Atrial septal d...	OMIM:164200
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Hawkinsinuria	4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria, Sparse hair, Fail...	OMIM:140350
Opitz-Kaveggia Syndrome	Hypospadias, Cryptorchidism, Fine hair, Abnormal heart morphology, Frontal upsweep of hair, Spars...	OMIM:305450
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Flexion contracture, Increased body weight, Abdominal obesity, Failure ...	ORPHA:398069
Weaver Syndrome	Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair	OMIM:277590
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Abnormality of skin pigmentation, Acute lymphoblastic leukemia, Mul...	ORPHA:1052
Wrinkly Skin Syndrome	Failure to thrive, Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Cutis...	ORPHA:2834
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Acral ulceration, Nail dysplasia, Nail dystrophy	OMIM:256800
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric ulcer, High palate, Hemangioma, Int...	OMIM:135900
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Sparse hair, ...	OMIM:609460
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Sparse body hair	ORPHA:3068
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Chordee, Thin skin, Sparse hair, Fail...	OMIM:151050
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Decreased body weight	OMIM:615349
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Dysphagia, Right ventricular hypertrophy, Car...	ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome...	OMIM:300967
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Recurrent loss of toenails and fingernails, Nail dystrophy, Skin ulcer	OMIM:245660
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Decreased testicular size, Cryptorchidism, Breast hypoplasia, Hypoplasia of th...	ORPHA:432
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Inguinal hernia, Iris hypopigmentation	ORPHA:2719
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:98754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Elevated circulating creatine kinase concentration	OMIM:253280
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Thin ski...	ORPHA:920
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Penetrating foot ulcers	ORPHA:99956
Adams-Oliver Syndrome 1	Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft palate, H...	OMIM:100300
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormal heart valve morphology, Redundant skin, Abnormality of hair texture, Abnormal ...	ORPHA:286
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Hepatic steatosis, Urinary incontinence	OMIM:619934
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:98793
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Long penis, Biliary tra...	OMIM:268300
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:177901
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:187300
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Crossed fused renal ectopia, Hypospadias, Anterior pituitary hypoplasia, Highl...	OMIM:619841
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, High, narrow palate, Cryptorchidism, Long eyelashes, Fingernail dyspla...	ORPHA:3107
Biotinidase Deficiency	Alopecia, Hyperammonemia	ORPHA:79241
Stuve-Wiedemann Syndrome 1	Sparse hair, Thin skin	OMIM:601559
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Obesity, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation...	ORPHA:177907
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Macroglossia, High palate,...	ORPHA:96191
Neurocardiofaciodigital Syndrome	Small for gestational age, Sparse eyebrow, Tetralogy of Fallot, Vesicoureteral reflux, Double inl...	OMIM:619869
Vici Syndrome	Hypopigmentation of hair, Albinism, Ocular albinism, Failure to thrive, Hypopigmentation of the skin	OMIM:242840
Prader-Willi Syndrome	Hypopigmentation of hair, Failure to thrive, Hypopigmentation of the skin, Abdominal obesity	ORPHA:739
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Hypospadias, Sparse axillary hair, Elevated circulating luteinizing ho...	ORPHA:90796
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Craniolenticulosutural Dysplasia	Sparse hair, Cryptorchidism, Coarse hair, Brittle hair	OMIM:607812
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Eczema, Obesity, Renal hypoplasia, Pseudohypoparathyroidism, Sparse hair, Frontal hirsutism, Fail...	OMIM:617157
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal eyelash morphology, Aortic valve stenosis, Tricuspid valve prolapse	ORPHA:2396
Renpenning Syndrome 1	Brittle hair, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hyp...	OMIM:309500
Blau Syndrome	Pericarditis, Skin ulcer	OMIM:186580
Phakomatosis Pigmentokeratotica	Hypophosphatemic rickets, Cryptorchidism, Patchy alopecia, Pheochromocytoma	ORPHA:2874
Woodhouse-Sakati Syndrome	Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Decreased testicular size	OMIM:241080
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thin eyeb...	ORPHA:2636
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Abnormal fingernail morphology, Pyelonephritis, Duplication of renal pelvis...	ORPHA:2036
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum	ORPHA:2612
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia,...	OMIM:130650
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, High palate, Anal atresia	ORPHA:96176
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Cryptorchidism, Horseshoe ...	OMIM:305600
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair, Micropenis, Hypopl...	OMIM:200110
Trichotillomania	Alopecia	OMIM:613229
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair, Abnormal dental enamel morphology, Congeni...	ORPHA:818
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Anal stenosis, Ventricular septal defect, Sparse eyelashes, Supernum...	OMIM:601803
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Myocar...	ORPHA:51608
Branchiooculofacial Syndrome	Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Low posterior hairline, Premature ...	OMIM:113620
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Wrinkly Skin Syndrome	Short nail, Cryptorchidism, Muscular ventricular septal defect, Atrial septal dilatation, Sparse ...	OMIM:278250
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Cryptorchidism, Nail dysplasia, Sparse hair	OMIM:616682
Pmm2-Cdg	Elevated hepatic transaminase, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morph...	ORPHA:79318
Acute Transverse Myelitis	Paralytic ileus, Decreased circulating copper concentration	ORPHA:139417
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hypertrichosis	ORPHA:573278
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Ony...	OMIM:182250
Menke-Hennekam Syndrome 1	Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow	OMIM:618332
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Trunc...	OMIM:259050

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 Ttc7

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 Ttc7.

No publications found that use IMPC mice or data for Ttc7.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ttc7^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ttc7^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ttc7^em1(IMPC)J	Exon Deletion	Mice

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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