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Gene: Loricrin MGI:96816

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Gene Summary

Name:
loricrin cornified envelope precursor protein
Synonyms:
N/A

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 System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
improved glucose tolerance Loricrintm1.1(KOMP)Vlcg HET Early adult 4.38×10-05
abnormal liver morphology Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal skin morphology Loricrintm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal heart morphology Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
small testis Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal uterus morphology Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
increased kidney weight Loricrintm1.1(KOMP)Vlcg HOM Early adult 4.19×10-08
small testis Loricrintm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged spleen Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Loricrintm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal skin morphology Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
increased kidney weight Loricrintm1.1(KOMP)Vlcg HET Early adult 7.08×10-07
abnormal vibrissa morphology Loricrintm1.1(KOMP)Vlcg HET Early adult 2.82×10-09
abnormal testis morphology Loricrintm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged uterus Loricrintm1.1(KOMP)Vlcg HET Early adult 0.00
increased spleen weight Loricrintm1.1(KOMP)Vlcg HOM Early adult 2.99×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

35 Images

View images

Human diseases caused by Loricrin 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, P... ORPHA:79395
Vohwinkel Syndrome, Variant Form
Parakeratosis, Orthokeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Erythrode... OMIM:620507
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Erythroderma, Scaling skin OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:615024
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Pustule, Erythroderma,... ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Palmoplantar keratoderma, Erythroderma, Hyperkeratosis ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma OMIM:604777
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth... ORPHA:79481
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Hy... OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma OMIM:615022
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus ORPHA:330064
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Pruritus OMIM:608649
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Punctate keratitis, Palmoplantar hyper... OMIM:602540
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Chronic otitis media, ... ORPHA:313
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting er... ORPHA:79147
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma ORPHA:1954
Ichthyosis With Confetti
Palmoplantar hyperkeratosis, Pruritus, Erythroderma, Scaling skin OMIM:609165
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Peeling Skin Syndrome 1
Pruritus, Erythroderma, Scaling skin OMIM:270300
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Pustular rash,... OMIM:613953
Congenital Ichthyosiform Erythroderma
Palmoplantar keratoderma, Pruritus, Erythroderma, Keratitis ORPHA:79394
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Perioral erythema, Pustule, Erythroderma, Perianal erythema OMIM:614328
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis OMIM:617571
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Erythroderma, Hyperkeratosis OMIM:615023
Bathing Suit Ichthyosis
Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin ORPHA:100976
Sézary Syndrome
Palmoplantar keratoderma, Dry skin, Erythroderma, Pruritus, Edema ORPHA:3162
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmar pruritus, Exce... ORPHA:498359
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Chronic rhinitis... OMIM:256500
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ... ORPHA:3406
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma OMIM:242300
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Orthokeratosis, Psoriasiform dermatitis, Eosinophilic infiltration of t... OMIM:615508
Congenital Disorder Of Glycosylation, Type If
Dry skin, Erythroderma, Hyperkeratosis, Scaling skin OMIM:609180
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane... OMIM:613736
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoos... OMIM:235200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Harlequin Ichthyosis
Erythroderma, Hyperkeratosis, Dehydration ORPHA:457
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu... ORPHA:139402
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess OMIM:619986
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... ORPHA:64745
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Omenn Syndrome
Pneumonia, Edema, Dry skin, Erythroderma, Pruritus, Thyroiditis ORPHA:39041
Netherton Syndrome
Eczematoid dermatitis, Dry skin, Skin rash, Erythroderma, Dehydration ORPHA:634
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin OMIM:602723
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri... ORPHA:87503
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Pruritus, Hyperkeratosis ORPHA:454
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Facial erythema, C... OMIM:603165
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma, Chronic oral candidiasis ORPHA:169160
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis ORPHA:79503
Diffuse Cutaneous Mastocytosis
Scaling skin, Pruritus, Erythroderma, Peau d'orange ORPHA:79456
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... ORPHA:85445
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur... ORPHA:90280
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogo... OMIM:613313
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis OMIM:146700
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Membranoproliferative glomerulonephri... OMIM:137940
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczematoid dermatitis, Psoriasiform dermatitis, Erythroderma, Scaling skin, Thyroiditis, Chronic ... OMIM:606367
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior hairline, Bicornuate... ORPHA:2578
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Petechiae, Infectious encephalitis, Ecchymosis, Erythroderma, Colitis, Maculopapular e... ORPHA:540
Elastoderma
Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling ORPHA:228240
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Erythroderma, Eczematoid dermatitis OMIM:619510
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Palmoplantar keratoderma, Erythroderma OMIM:242150
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Ventricular septal defect OMIM:615524
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Generalized Pustular Psoriasis
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Pedal edema, Uveitis ORPHA:247353
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Erythema OMIM:254400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Renal agenesis, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal ... ORPHA:3411
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, ... OMIM:608978
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency OMIM:619120
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E... OMIM:613885
Classic Mycosis Fungoides
Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis, Edema ORPHA:2584
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Cutis laxa, Excessive wrinkled skin, Thin skin OMIM:614438
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin ORPHA:90160
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis ORPHA:90368
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma ORPHA:169154
Complete Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Abnormal morphology of female ... ORPHA:99429
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Bullous Impetigo
Pustule, Erythema, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Trichothiodystrophy 1, Photosensitive
Dry skin, Keratoconjunctivitis sicca, Erythroderma, Hyperkeratosis OMIM:601675
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Sparse lateral eyebrow, Abnormal female external geni... OMIM:277000
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Ovarian Fibrothecoma
Abnormality of the ovary, Ascites, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endom... ORPHA:314478
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythroderma, Thin skin OMIM:615895
Cutis Laxa, Autosomal Dominant 3
Dermal translucency, Cutis laxa, Premature skin wrinkling OMIM:616603
Lichen Planus Pemphigoides
Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis ORPHA:254478
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Hyperglycemia, Decreased libido, Port... ORPHA:465508
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren... OMIM:130650
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Acantholysis, Edema, Thin skin ORPHA:455
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency OMIM:619115
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Glucose intolerance, Polycystic ovar... OMIM:615363
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Dermal translucency, Gingival hyperkeratosis, Blepharochalasis, Redundant skin OMIM:225410
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Primary ameno... OMIM:612526
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma, Scaling skin ORPHA:35173
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency, Oligohydramnios, Esophagitis ORPHA:541423
Idiopathic Localized Lipodystrophy
Pruritus, Scaling skin, Inflammatory abnormality of the skin, Erythema ORPHA:90158
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnormality of endocrine ... ORPHA:93111
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Tetralogy of ... OMIM:601186
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
H Syndrome
Alopecia, Histiocytosis, Hypertrichosis, Hypogonadism, Abnormal eyebrow morphology, Azoospermia, ... ORPHA:168569
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... ORPHA:2970
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macr... OMIM:617303
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Impotenc... OMIM:606069
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Infantile Sialic Acid Storage Disease
Fair hair, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic s... OMIM:269920
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S... ORPHA:2237
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:432
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter... OMIM:601076
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Chronic mucocutane... OMIM:618131
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism, Renal hypoplasia/aplasia, Ureteral d... ORPHA:1756
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegal... ORPHA:79083
De Barsy Syndrome
Dermal translucency, Cutis laxa, Excessive wrinkled skin, Thin skin ORPHA:2962
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Angioedema, Pleural effusion, Joint ... ORPHA:3260
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Proximal renal tubular acidosis, ... OMIM:146255
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis, Edema ORPHA:166113
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Renal agenesis, Abnormality ... ORPHA:247768
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, El... OMIM:608836
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Recurrent hypoglycemia, Decre... OMIM:212140
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232220
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Erythroderma, Edema OMIM:302960
Wolman Disease
Adrenal calcification, Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Frontotemporal hypertrichosis, Abnormal heart morphology, Bicornuate uterus,... OMIM:263210
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Absence of pubertal development, Hyp... ORPHA:785
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Webbed neck, Dermal translucency, Thin skin OMIM:617506
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Dermal translucency, Cutis laxa OMIM:615349
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Ascites,... ORPHA:1655
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r... ORPHA:2470
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Olmsted Syndrome 2
Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperke... OMIM:619208
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Donnai-Barrow Syndrome
Abnormality of the uterus, Ventricular septal defect, Proteinuria, Bicornuate uterus, Widow's peak ORPHA:2143
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... OMIM:603903
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ... ORPHA:65681
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Mucopolysaccharidosis, Type Iiib
Coarse hair, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomeg... OMIM:252920
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma OMIM:617425
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Splenomegaly, Elevated circulating hepatic transaminase concentration ORPHA:75563
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar hyperker... OMIM:616295
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology ORPHA:85447
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Incre... OMIM:158330
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, Oligohydramnios, Thin skin ORPHA:536467
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Long penis, Clitoral hyper... ORPHA:508
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorrhea, G... ORPHA:2348
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas... ORPHA:83628
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232200
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Ambiguous genitalia, female, Vesicoureteral reflux, Quadricuspid aorti... OMIM:606408
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dermal translucency, Thin skin OMIM:612199
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li... OMIM:256550
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytop... OMIM:619151
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bla... OMIM:222300
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Protoporphyria, Erythropoietic, 1
Erythema, Pruritus, Eczematoid dermatitis, Edema OMIM:177000
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Generalized hirsutism, Abnormality... ORPHA:93476
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova... ORPHA:3130
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper... ORPHA:90186
Cutaneous Collagenous Vasculopathy
Petechiae, Erythema, Pruritus, Skin rash ORPHA:280779
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Pruritus, Blepharitis OMIM:618535
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos... OMIM:259100
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Facial erythema, Follicular hyperker... OMIM:308800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Glucose... OMIM:615630
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal... ORPHA:322
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Cirrhosis, Thrombocytopenia, Testicula... OMIM:613987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dermal translucency OMIM:618343
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Long eyelashes, Cardiomegaly, Hepatomega... OMIM:619064
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Chronic neutrop... ORPHA:79259
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Primary amenorrhea, Vaginal atresia, Bicornuate uterus, Re... OMIM:191830
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepat... ORPHA:264580
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Acantholysis, Pr... ORPHA:555905
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Right ventricular dilatation, Hypertrichosis, Abn... ORPHA:79328
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... OMIM:300918
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Trichothiodystrophy
Eczematoid dermatitis, Dry skin, Congenital exfoliative erythroderma, Keratoconjunctivitis sicca,... ORPHA:33364
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat... ORPHA:1414
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content OMIM:261750
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Barber-Say Syndrome
Dry skin, Dermal translucency, Redundant skin, Premature skin wrinkling OMIM:209885
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Parakeratosis, Pruritus, Hyperkeratosis OMIM:615821
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,... OMIM:201475
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis, Oligoarthritis, Cholangitis OMIM:614204
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Abnormality of the uterus, Recurrent urinary tract infections, Vesico... ORPHA:2438
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Hepatosplenomegaly, Hype... OMIM:278000
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Subungual hyperkeratosis, Hydromyelia, Keratitis, Eczematoid dermatitis, Dry skin, Oligohydramnio... OMIM:308205
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Restrictive Dermopathy
Webbed neck, Generalized hyperkeratosis, Scaling skin, Polyhydramnios, Dermal translucency, Epide... ORPHA:1662
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:613490
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Letterer-Siwe Disease
Seborrheic dermatitis, Stomatitis, Pallor OMIM:246400
46,Xy Sex Reversal 4
Renal dysplasia, Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplas... OMIM:154230
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Vaginal at... OMIM:617914
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchidism, Renal hypo... ORPHA:1926
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Visceromegaly, ... ORPHA:116
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, External genital hypoplasia, Hepatosplenomegaly, Hirsutism, ... ORPHA:79330
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, High anterior hairline, Recurrent urinary tract infections, Horseshoe ... OMIM:613680
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, Ventric... OMIM:264480
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Sparse eyebrow, Highly arched eyebrow... OMIM:614527
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri... OMIM:616589
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Abnormal hear... ORPHA:99776
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Autosomal Dominant Cutis Laxa
Premature skin wrinkling, Pyelonephritis, Redundant skin, Redundant neck skin, Cutis laxa, Dermal... ORPHA:90348
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Striae distensae, Knee osteoarthritis, Osteoarthritis, Dermal translucency OMIM:619656
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Widow's peak, Ventricular septal defect, Atrial septal defect, Shawl scrot... OMIM:145420
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Hypertrichosis, Abnormal heart morphology, Heparan sulfate excretion... ORPHA:505248
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Mody
Abnormal circulating insulin concentration, Nephropathy, Abnormal oral glucose tolerance, Pancrea... ORPHA:552
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, ... ORPHA:290
Acute Generalized Exanthematous Pustulosis
Facial edema, Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic derm... ORPHA:293173
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphol... ORPHA:991
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia, Hypoglycemia OMIM:618838
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi... OMIM:269700
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Centrifugal Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin ORPHA:90156
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Dyspareunia, Labial hypoplasia, Micropenis, Hypospadias, Clitor... OMIM:164745
Immunodeficiency 48
Abnormal B cell count, Splenomeg