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Gene: Cst6 MGI:1920970

Gene Summary

Name:

cystatin E/M

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
hydrometra	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
increased circulating creatine kinase level	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	2.07×10^-13
rib fusion	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	8.07×10^-06
decreased circulating serum albumin level	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	6.68×10^-05
enlarged spleen	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Cst6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small spleen	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal digit morphology	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	7.95×10^-05
abnormal uterus morphology	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal heart morphology	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal skin morphology	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
enlarged heart	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal spleen morphology	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal rib morphology	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	3.05×10^-05
decreased lean body mass	Cst6^{em1(IMPC)Ccpcz}	HET	Early adult	6.45×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Human diseases caused by Cst6 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 Cst6 (1 diseases)
Human diseases predicted to be associated with Cst6 (1437 diseases)

The table below shows human diseases associated to Cst6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type		Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535

The table below shows human diseases predicted to be associated to Cst6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Scaling skin on fingertip, Hypergranulosis, Honeyc...	ORPHA:79395
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ...	OMIM:607602
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia...	ORPHA:90368
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich...	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Gene...	OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke...	ORPHA:100976
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos...	ORPHA:505
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Ichthyosis With Confetti	Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Congenital nonbullous i...	OMIM:609165
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C...	ORPHA:2269
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur...	OMIM:607626
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti...	ORPHA:38
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus	ORPHA:737
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Bazex Syndrome	Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ...	ORPHA:166113
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Abnormal fingernail morphology, Maculopap...	ORPHA:79147
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Unilateral brachydactyly, Short ri...	OMIM:173800
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin, Pruritus	OMIM:616265
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,...	OMIM:113800
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry ...	ORPHA:317
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	OMIM:616295
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos...	OMIM:619208
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia, Reduced epidermal extracellular matrix protein 1...	OMIM:247100
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea	ORPHA:90158
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Hypoplastic labia minora, Rib fusion, Up...	ORPHA:64755
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, ...	ORPHA:79501
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Femoral-Facial Syndrome	Short femur, Cryptorchidism, Long penis, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal...	ORPHA:1988
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni...	OMIM:242300
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
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
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp...	OMIM:300918
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased...	OMIM:616050
Diarrhea 13	Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormalit...	ORPHA:2584
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ...	OMIM:613102
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger	OMIM:609813
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair	OMIM:618625
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r...	ORPHA:1354
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Hypoalbumi...	OMIM:618805
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Ethanolaminosis	Cardiomegaly	OMIM:227150
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n...	ORPHA:1010
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform...	OMIM:308050
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hep...	OMIM:619013
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Cryptorc...	ORPHA:2311
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode...	ORPHA:312
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Abnormal morphology of...	ORPHA:1797
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fing...	ORPHA:79320
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Rhizomelia, Hypospadias, Cryptorchidism, Gia...	OMIM:611209
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinin...	OMIM:608104
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, ...	OMIM:618373
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Abnor...	OMIM:269920
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma	OMIM:270300
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v...	OMIM:602271
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Pectus excavatum, Thrombocytopenia, Splenomegaly, Metaphyseal widening, Clubbing, P...	OMIM:617303
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Flared metaphysis, Thin ribs, Micropenis, Slender long bone, Hypocal...	OMIM:602361
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology, Narrow chest	ORPHA:417
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Ventricular septal defect, Down-sloping shoulder...	ORPHA:392
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ...	OMIM:615633
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Erythroderma, Hyperkeratosis, Ichthyosis, Sparse hair, Dry ski...	ORPHA:313
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa...	ORPHA:2985
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Failure to thrive, Portal hypertension, Dilated cardiomyopathy, Hepatosplenomegaly,...	ORPHA:367
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia	OMIM:603278
Cutaneous Mastocytoma	Maculopapular exanthema, Pruritus, Thickened skin, Erythema, Scaling skin	ORPHA:79455
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, ...	OMIM:608649
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma...	ORPHA:35173
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pe...	OMIM:235510
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Nephrotic Syndrome, Type 11	Ventricular septal defect, Arachnodactyly, Partial duplication of thumb phalanx, Dilated cardiomy...	OMIM:616730
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Decreased body weight, Metaphyseal dysplasia, Jaundice, Hyperammonemi...	ORPHA:1667
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis	ORPHA:525
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Lateral clavicle hook, Splenomegaly, Postaxial hand poly...	OMIM:615630
Recessive X-Linked Ichthyosis	Cryptorchidism, Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocyto...	OMIM:226300
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow	OMIM:606242
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Failure to thrive, Slow-growing hair, Eczema, Hyperkeratosis, Aplasia/Hyp...	ORPHA:238468
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Erythema, Low anterior hairline, Crusting erythematous ...	ORPHA:742
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Noonan Syndrome 8	Curly hair, Eczema, Large for gestational age, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmo...	OMIM:615355
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli...	ORPHA:158668
Darier Disease	Acrokeratosis, Abnormal hair morphology, Thickened skin, Pruritus, Palmoplantar keratoderma, Skin...	ORPHA:218
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Alopecia, Erythema, Scaling skin	ORPHA:90156
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ...	OMIM:275400
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin	OMIM:613707
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp...	OMIM:251880
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding	OMIM:619692
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight loss, Asc...	ORPHA:90362
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, B lympho...	OMIM:241600
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive, Curly hair, Webbed neck	OMIM:615279
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology	ORPHA:79327
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin	OMIM:612952
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Patchy a...	OMIM:606367
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Galloway-Mowat Syndrome 6	Clinodactyly of the 5th finger, Hypoalbuminemia, Decreased body weight	OMIM:618347
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Pr...	ORPHA:93267
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Ramon Syndrome	Hyperkeratosis, Failure to thrive, Generalized hirsutism	ORPHA:3019
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Failure to thrive	ORPHA:79319
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm...	OMIM:308800
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Pectus carinatum, Abnormal tricuspid valve morphology, Clinodactyly of the 5...	ORPHA:1507
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Failure to thrive, Portal hyper...	OMIM:619487
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Rib fusion, Obesity, Abnormal heart morphology, Hand polydactyly, Abnormal aortic v...	ORPHA:261197
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy	OMIM:129200
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Elevated...	OMIM:300280
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Pectus excavatum,...	ORPHA:2990
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Dermoodontodysplasia	Sparse scalp hair, Thin skin, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia,...	ORPHA:1660
Robinow Syndrome, Autosomal Recessive 1	Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocate...	OMIM:268310
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Failure to thrive, Lymphangiectasis	OMIM:602579
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st...	OMIM:614480
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer	ORPHA:454831
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Sparse body hair, Obesity	ORPHA:85274
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos...	ORPHA:292
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi...	OMIM:246700
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair	ORPHA:79402
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno...	ORPHA:93941
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Eosinophilic derma...	ORPHA:293173
Recon Progeroid Syndrome	Hyperconvex thumb nails, Absent lower eyelashes, Scaling skin, Thin skin, Dry skin, Hirsutism	OMIM:620370
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Spondylocostal Dysostosis 5	Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs	OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive	Dextrocardia, Missing ribs, Pectus excavatum, Situs inversus totalis, Short thorax, Rib fusion, B...	OMIM:613686
Robinow Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Atrial septal defect, Webbed pen...	ORPHA:97360
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive	OMIM:230350
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguous genitalia, Tetralog...	ORPHA:276422
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Failure to thrive, Sparse eyelashes, Inflammatory abnormality of the skin, Sparse eyebr...	OMIM:610768
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Sparse body hair, Failure to thrive, Decreased testicular size	ORPHA:261483
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa...	OMIM:242150
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema, Nail dystrophy	OMIM:614204
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt...	ORPHA:3363
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion	ORPHA:163525
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gestational age, Increased ...	OMIM:222470
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Cryptorchidism, Humeroradial synosto...	OMIM:134780
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand...	OMIM:146510
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholog...	ORPHA:1703
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Axial Spondylometaphyseal Dysplasia	Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Coxa vara, Narr...	ORPHA:168549
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:129490
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Alg12-Cdg	Proximal placement of thumb, Hypoalbuminemia, Hypocholesterolemia, Clinodactyly of the 5th finger...	ORPHA:79324
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformit...	OMIM:610539
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Abnormal heart morphology, Midclavicular hypoplasia, Clubbing of fin...	ORPHA:79076
Sjögren-Larsson Syndrome	Hyperkeratosis, Erythema, Dry skin, Ichthyosis	ORPHA:816
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morpholo...	ORPHA:2772
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Mpdu1-Cdg	Scaling skin, Eczema, Decreased response to growth hormone stimulation test, Ichthyosis	ORPHA:79323
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Proteus Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Ventricular septal defect, Small for gestational age, Fractu...	OMIM:616897
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, La...	OMIM:617895
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Small for gestational age, Erythroderma, Fine hair, Hyperkeratosis, ...	OMIM:601675
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni...	OMIM:618131
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypogonadism, Micropenis, Lymphopenia	OMIM:617575
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Thrombocytopenia, Pectus carinatum, Hepatosplenomegaly, Leukopenia, Abnormal...	ORPHA:505248
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Aplasia of the vagina, Short ribs...	OMIM:271520
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Slender build	ORPHA:352470
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Abnormality of the nail, Pruritus	ORPHA:254478
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Abnormal rib morphology, N...	ORPHA:436
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Atrial septal defect, Accessory spleen, Pseudoepiphyses of the m...	OMIM:194190
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia...	ORPHA:85443
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Long clavicles, Arachnodactyly, Down-sloping shoulders, Rocker bottom foot, Hypospadi...	OMIM:265000
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec...	OMIM:256500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral m...	OMIM:613320
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia	OMIM:152800
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Scaling skin, Erythroderma	ORPHA:79456
Kbg Syndrome	Syndactyly, Single transverse palmar crease, Epispadias, Cryptorchidism, Rib fusion, Cutaneous sy...	OMIM:148050
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenop...	ORPHA:858
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic...	OMIM:613070
Cantu Syndrome	Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Large for ...	OMIM:239850
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty...	OMIM:270400
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormal heart valve morphology, Arachno...	ORPHA:280
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th...	ORPHA:1606
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Abnormal pericardium morphology, Leukocytosis, Weight loss, Hypoalbuminemia, Const...	ORPHA:67
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Abnormal rib morphology, Aplasia/hypoplasia of the uterus	ORPHA:2578
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A...	ORPHA:2319
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Toenail dysplasia	OMIM:615907
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal rib morphology, Abnormal fibula m...	ORPHA:3035
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Costello Syndrome	Deep-set nails, Failure to thrive in infancy, Redundant skin, Abnormal fingernail morphology, Con...	ORPHA:3071
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Enlargement of the costochondral junction, Capitate-hama...	OMIM:271650
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Adducted thumb	ORPHA:89844
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ...	ORPHA:3082
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Large for gestational age, Pectus excav...	OMIM:213980
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Atrichia, Scaling skin, Periungual erythema, Neonatal death, Dystrophic ...	OMIM:308205
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing...	OMIM:274000
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax...	ORPHA:1120
Prune Belly Syndrome	Failure to thrive, Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Crypt...	ORPHA:2970
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Lateral clavic...	OMIM:615503
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal rib morphology, Long thorax, Halberd-shaped pelvis,...	ORPHA:2635
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity...	OMIM:250420
Aredyld	Generalized hypotrichosis	OMIM:207780
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:2790
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Large for gestational age, Bilateral cryptorchidism, Rib fusion, Cli...	ORPHA:544488
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegal...	OMIM:617022
Hawkinsinuria	Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h...	OMIM:602782
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyp...	OMIM:617093
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Mirage Syndrome	Hyponatremia, Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Shawl scrotum, Thr...	OMIM:617053
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Failure to thrive, Splenomegaly	OMIM:269840
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Failure to thrive, Cardio...	ORPHA:14
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Heyn-Sproul-Jackson Syndrome	Sparse hair, Decreased body weight	OMIM:618724
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Pericardial effusion, Cardiomyopathy,...	OMIM:212065
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Psoriasiform lesion, Erythroderma	ORPHA:169154
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Eosinoph...	OMIM:616651
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Hypogonadotropic...	ORPHA:465508
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormal rib morphology, Obesity, Hypogona...	ORPHA:2234
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h...	OMIM:308300
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ...	ORPHA:3051
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, Acan...	ORPHA:59303
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Microcephalic Primordial Dwarfism, Toriello Type	Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia	ORPHA:2643
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Failure to thrive, Thin skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Cog1-Cdg	Rhizomelia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Hepatosplenomegaly, ...	ORPHA:263508
19Q13.11 Microdeletion Syndrome	Failure to thrive, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent ey...	ORPHA:217346
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormal fallopian tube morphology, Splenomegaly, Pancre...	ORPHA:1655
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Splenomegaly, Ascites, Anemia	ORPHA:1046
Dowling-Degos Disease	Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Ac...	ORPHA:79145
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abno...	ORPHA:1666
Pallister-Hall Syndrome	Small scrotum, Large for gestational age, Atrial septal defect, Atrioventricular canal defect, Mi...	ORPHA:672
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Failure to thrive in infancy, Abnormal eyelash m...	ORPHA:1340
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Opsismodysplasia	Hepatomegaly, Tapered finger, Pectus excavatum, Splenomegaly, Squared iliac bones, Hypoplastic pu...	ORPHA:2746
Ellis-Van Creveld Syndrome	Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalang...	OMIM:225500
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Combined Oxidative Phosphorylation Deficiency 37	Bile duct proliferation, Hypoalbuminemia, Macrovesicular hepatic steatosis, Hyperalaninemia, Hype...	OMIM:618329
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Dilated cardiomyopathy, Anemia, Decreased serum zinc, Hy...	ORPHA:89842
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Progeroid Syndrome, Petty Type	Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long...	ORPHA:2963
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial septal defect,...	ORPHA:2475
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Thrombocytopenia, Cryptorchidism, Hyperhomocystinemia,...	OMIM:614857
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Elevated circulating luteinizing hormone level, Highly arched eyebrow,...	OMIM:618419
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, A...	ORPHA:140936
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla...	ORPHA:202
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Cryptorchidism, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Sprengel anomaly	OMIM:601076
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H...	ORPHA:171
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Myocarditis, Peritonitis, Elevated circulatin...	ORPHA:36234
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Lateral clavicle hook, Early ossification of capital femoral epiph...	OMIM:208500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D...	OMIM:150400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora...	OMIM:608940
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib...	OMIM:223800
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviation of the hand...	OMIM:218600
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Clubbing, Hypoalbuminemia	OMIM:614441
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Bil...	ORPHA:2298
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ...	OMIM:602557
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Aicardi Syndrome	Missing ribs, Precocious puberty, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifi...	ORPHA:50
Wilson Disease	Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ...	OMIM:277900
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia,...	OMIM:614702
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Hypertrichosis, Scaling skin, Hirsutism, Cutaneous abscess	ORPHA:101330
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot ...	OMIM:616589
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Splenomegaly, Genu valgum, Broad ribs, Abn...	ORPHA:583
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, R...	OMIM:228520
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic h...	OMIM:148210
Cerebrofaciothoracic Dysplasia	Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs	ORPHA:1394
Filippi Syndrome	Cryptorchidism, Decreased body weight, Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Stillbi...	OMIM:275210
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Galloway-Mowat Syndrome 3	Arachnodactyly, Pectus excavatum, Hip dislocation, Hypoalbuminemia, Camptodactyly, Failure to thrive	OMIM:617729
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Hypospadias, Asplenia, ...	OMIM:265380
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Hyperkeratosis, Testicular seminoma, Ichthyosis	ORPHA:281090
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ...	ORPHA:3130
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, A...	ORPHA:2519
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Microphthalmia, Syndromic 3	Ventricular septal defect, Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Cryptorchidi...	OMIM:206900
Juvenile Polyposis Syndrome	Clubbing, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Failure to thrive, Long eyelashes, Epidermal acanthosis	OMIM:616069
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Ichthyosis	ORPHA:177
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline, Azoospermia	ORPHA:2183
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con...	ORPHA:2484
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Grant Syndrome	Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow...	ORPHA:2097
Kenny-Caffey Syndrome, Type 1	Short palm, Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone,...	OMIM:244460
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne...	ORPHA:79301
Renpenning Syndrome	Hypospadias, Cachexia, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clin...	ORPHA:3242
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Failure to thrive, Conjugated hyperbilirubinemia, Microvesicular hepatic steato...	OMIM:617156
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Greenberg Dysplasia	Micromelia, Beaded ribs, Tetraphocomelia, Hypoplasia of the calcaneus, Narrow chest, Short phalan...	OMIM:215140
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Pectus excavatum, Abnormal rib morphology, Abnormal hi...	ORPHA:2522
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy, Neutropenia, Failur...	ORPHA:79312
Kagami-Ogata Syndrome	Hepatomegaly, Long clavicles, Ventricular septal defect, Coxa valga, Splenomegaly, Long fingers, ...	OMIM:608149
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary cirrhosis, Hepatitis, Abnor...	ORPHA:186
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Bazex-Dupre-Christol Syndrome	Eczema, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Acne inversa, Pili torti,...	OMIM:301845
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca...	OMIM:618183
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Penile...	ORPHA:456328
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Thickened skin, Abnormal hair morphology, Leukonychia,...	ORPHA:2526
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Atrial ...	OMIM:250220
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triangular shaped dist...	ORPHA:73230
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Hypocalc...	ORPHA:175
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi...	OMIM:618440
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul...	OMIM:228000
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Pectus excavatum, The...	ORPHA:2463
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Large for gestational age, Cryptorchidism, Webbed neck, Hy...	OMIM:607721
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Skin rash, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat...	ORPHA:1334
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Donohue Syndrome	Hyperkeratosis, Ovarian cyst, Severe failure to thrive, Nail dysplasia, Acanthosis nigricans, Hyp...	OMIM:246200
Werner Syndrome	Sparse scalp hair, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Ovarian neoplasm, Pr...	ORPHA:902
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Sparse hair...	ORPHA:1807
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys...	OMIM:600081
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ...	OMIM:184250
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Trisomy 13	Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, A...	ORPHA:3378
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Cryptorchidism, Elbow ...	ORPHA:1145
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Vacterl/Vater Association	Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, ...	ORPHA:887
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cachexia, Cardiomegaly, Hyperam...	ORPHA:42
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe...	OMIM:157800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar h...	OMIM:609945
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Lateral clavicle hook, Preax...	OMIM:263520
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te...	OMIM:615280
Aicardi Syndrome	Proximal placement of thumb, Missing ribs, Precocious puberty, Rib fusion, Supernumerary ribs, Bi...	OMIM:304050
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ...	OMIM:617088
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Patent foramen ovale, Hepatomeg...	OMIM:269860
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Ifap Syndrome 2	Ichthyosis follicularis, Nail dystrophy, Perioral erythema, Atrichia, Sparse hair	OMIM:619016
Achondrogenesis Type 1B	Micromelia, Short thorax, Abnormal rib morphology, Short foot, Talipes equinovarus, Narrow chest	ORPHA:93298
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Barth Syndrome	Failure to thrive, Fair hair, Abnormal mitochondrial morphology	OMIM:302060
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper...	OMIM:619046
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, T...	OMIM:620076
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Neonatal death	OMIM:620014
Intellectual Developmental Disorder, Autosomal Recessive 5	Small for gestational age, Eczema, Synophrys, Sparse hair, Thick eyebrow	OMIM:611091
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Acanthosis nigricans, Dry skin, Sparse hair, Polycystic ovaries	OMIM:268020
Graft Versus Host Disease	Inflammatory abnormality of the skin, Failure to thrive, Maculopapular exanthema, Scaling skin	ORPHA:39812
Pagod Syndrome	Abnormal clavicle morphology, Situs inversus totalis, Abnormality of the spleen, Abnormal rib mor...	ORPHA:991
Müllerian Aplasia And Hyperandrogenism	Obesity, Shield chest, Hypoplasia of the uterus, Cubitus valgus, Abnormal vagina morphology, Abno...	ORPHA:247768
Trichohepatoenteric Syndrome 2	Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th...	OMIM:614602
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit...	OMIM:618886
Cardiac-Urogenital Syndrome	Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein...	OMIM:612852
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Abnormal fingernail morphology, Recurrent skin infections,...	ORPHA:678
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Failure to thrive, Small for gestational age, Slender build, Portal hypertension, S...	OMIM:613658
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Pontine Tegmental Cap Dysplasia	Failure to thrive, Rib fusion	OMIM:614688
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Abnormal r...	ORPHA:2876
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Mulibrey Nanism	Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con...	OMIM:253250
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Pectus carinatum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyl...	OMIM:276820
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia, Pectus carinatum	OMIM:618107
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale...	OMIM:607872
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Small for gestationa...	OMIM:606003
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyper...	OMIM:124200
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Axial Mesodermal Dysplasia Spectrum	Missing ribs, Abnormality of the spleen, Abnormal rib morphology, Abnormal pelvic girdle bone mor...	ORPHA:1834
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
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Ventricular septal defect, Sprengel anomaly, Abnormal rib morphology	ORPHA:2345
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Pectus carinatum, Shoulder dislocation, Narrow chest, Atrial...	OMIM:245600
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Brachydactyly	ORPHA:2145
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Irregular ca...	OMIM:252600
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ...	ORPHA:2616
Gand Syndrome	Sparse hair	OMIM:615074
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas...	ORPHA:1318
Rat-Bite Fever	Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill...	ORPHA:31205
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sp...	ORPHA:958
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Thoracolum...	OMIM:252500
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Asplenia, Finger clinodactyly, Abnormality of the uterus, Abnorm...	ORPHA:99776
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Xylt1-Cdg	Hepatomegaly, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck...	ORPHA:370930
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna...	OMIM:269250
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Syndactyly, Anisocyto...	OMIM:224120
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Cryptorchidism, Split hand, Abno...	ORPHA:1300
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab...	ORPHA:1488
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Thickened ribs, Asymmetric septal hypertrophy	OMIM:252900
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmop...	OMIM:604173
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea...	OMIM:618652
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Anonychia, Palmoplantar keratoderma, Nail dystrophy, Sm...	ORPHA:79410
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Frontal upsweep of hair, Failure to thrive in infancy, Broad eyebrow	OMIM:301220
Attrv30M Amyloidosis	Cardiomyopathy, Weight loss, Cardiomegaly	ORPHA:85447
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Meier-Gorlin Syndrome 1	Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger syndactyly, Short p...	OMIM:224690
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, Ovarian cyst, Short lon...	OMIM:618188
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Galloway-Mowat Syndrome 1	Small for gestational age, Hypoalbuminemia, Talipes equinovarus, Camptodactyly, Hand clenching, J...	OMIM:251300
Milroy Disease	Hydrocele testis, Hyperkeratosis, Erysipelas, Toenail dysplasia	ORPHA:79452
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Tapered toe, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:608836
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Campt...	ORPHA:90652
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular...	OMIM:616028
Cutis Laxa, Autosomal Recessive, Type Iiia	Cryptorchidism, Cutis laxa, Thin skin, Sparse hair, Failure to thrive	OMIM:219150
Noonan Syndrome 6	Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Webbed neck, Sparse hair	OMIM:613224
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Femoral bowing, Abnormal ovarian morphology, Narrow chest, Abnormality of the...	ORPHA:95699
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Bell-shaped t...	ORPHA:2021
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Dry skin, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Failure t...	OMIM:617388
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Failure to thrive, B...	OMIM:278000
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Thin ribs, Bell-sh...	OMIM:166210
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism	OMIM:273390
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Metaphyseal widening, Broad palm, Coxa vara, Thin ribs, Metaphyseal cupping...	OMIM:300232
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Achondrogenesis, Type Ia	Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Be...	OMIM:200600
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Rib fusion, Small hand, Short foot, Cervical ribs,...	OMIM:617140
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, Small scrotum...	ORPHA:261344
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Bowing of the legs, Abnormal circulating calcium concentration, Enlargement of...	OMIM:241530
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Small scrotum, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered fin...	ORPHA:2215
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Diaphyseal sclerosis	OMIM:122860
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Atrial septal defect, External genital hypoplasia, Cardiomegaly...	ORPHA:79330
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir...	ORPHA:90363
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Thin ribs, Delayed ossification...	OMIM:618395
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Ellis Van Creveld Syndrome	Micromelia, Epispadias, Narrow chest, Atrial septal defect, Atrioventricular canal defect, Synost...	ORPHA:289
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Areflexia of up...	OMIM:300842
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Septate vagina, Lateral clavicle hook, Complete atriov...	OMIM:617925
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetralogy of Fallot,...	OMIM:601005
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela...	OMIM:305100
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior...	OMIM:115150
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Ichthyosis	OMIM:602541
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Short thorax, Short foot, Narrow chest, Short palm	ORPHA:93299
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina...	OMIM:619055
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Obesity, Sprengel anomaly, Brachydactyly	ORPHA:2180
Hurler Syndrome	Abnormal clavicle morphology, Hepatomegaly, Abnormal heart valve morphology, Abnormality of the t...	ORPHA:93473
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Abnormal heart valve morphology, Ulnar deviation of the wrist, Coxa valga, Epiphyse...	OMIM:253000
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Cryptorchidism, Abnormal rib mor...	ORPHA:52
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat...	ORPHA:2930
Infantile Liver Failure Syndrome 3	Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, S...	OMIM:618641
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, H...	OMIM:269150
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Mucoepithelial Dysplasia, Hereditary	Alopecia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Follicular hyperkeratos...	OMIM:158310
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis...	OMIM:618278
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Thoracic kyphoscoliosis, Hepatomegaly, Pancytopenia, Failure to thrive in infancy,...	OMIM:613385
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Xfe Progeroid Syndrome	Failure to thrive, Ascites, Hypoalbuminemia, Cachexia	OMIM:610965
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad hallux, Short femoral neck...	OMIM:618019
Bone Marrow Failure Syndrome 3	Eczema, Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Nail dystrophy, Small nail, Hyperec...	OMIM:617052
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:268
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Synophrys, Facial erythema, Scaling skin, ...	OMIM:619503
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin	OMIM:601701
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Failure to th...	OMIM:235555
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Cryptorchidism, Cutis laxa, Ichthyosis, Sparse hair, De...	OMIM:613075
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Large for gestational age, Abnormal heart m...	ORPHA:254534
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Metaphyseal irregularity, Narrow chest, Hy...	OMIM:239200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr...	OMIM:618495
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Abnormal hair morpholo...	ORPHA:464
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Even-Plus Syndrome	Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow	OMIM:616854
Meacham Syndrome	Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno...	ORPHA:3097
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Sparse hair, Failure to t...	OMIM:601812
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa	OMIM:616564
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Genu val...	OMIM:619698
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega...	OMIM:618143
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Cutis laxa, Fine hair, Excessive wrinkled skin, Thin skin, Sparse hair, Dermal tr...	OMIM:614438
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Glandular hypospadia...	OMIM:620306
Xeroderma Pigmentosum	Alopecia, Failure to thrive, Thickened skin, Cryptorchidism, Erythema, Hyperkeratosis, Thin skin,...	ORPHA:910
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger	ORPHA:2759
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl...	OMIM:271640
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Failure to thrive, Dry skin	OMIM:614576
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Thin skin, Acanthosis nigricans, Hypoplastic fingernail	ORPHA:2457
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode...	OMIM:106260
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Skin rash, Pustule, Erythema, Malar rash, Nail dystrophy, Periungu...	OMIM:615934
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormal rib morphology, Pectus carinatum, Ab...	ORPHA:3068
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Coxa valga, Short thorax, Abnormal rib...	ORPHA:582
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Osteogenesis Imperfecta, Type Ix	Pectus excavatum, Pectus carinatum, Short lower limbs, Beaded ribs	OMIM:259440
Gm1-Gangliosidosis, Type I	Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocyt...	OMIM:230500
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive	ORPHA:99931
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Scarf Syndrome	Cryptorchidism, Cutis laxa, Low posterior hairline, Hypoplastic nipples, Webbed neck, Sparse hair	ORPHA:3134
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Frontometaphyseal Dysplasia 1	Carpal synostosis, Scapular winging, Bowing of the long bones, Arachnodactyly, Interphalangeal jo...	OMIM:305620
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Hypoplasia of the uterus, Hip dysplasia, Clinodac...	OMIM:614851
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Mucopolysaccharidosis, Type Iiic	Splenomegaly, Hepatomegaly, Thickened ribs, Asymmetric septal hypertrophy	OMIM:252930
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve...	ORPHA:324410
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Missing ribs, Split hand, Hypoplasi...	OMIM:200980
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Cryptorchidism, Small for gestational age, Fine hair	OMIM:616817
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal rib morphology	ORPHA:280195
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Small for gestational age, Decreased activity of mitochondrial complex I	OMIM:618253
Immunodeficiency, Common Variable, 8, With Autoimmunity	Erythema nodosum, Failure to thrive, Psoriasiform lesion	OMIM:614700
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Chronic mucocutaneous candidiasis, Nail dystrophy, Sparse hair, Hypopituitarism, Failure ...	ORPHA:98813
Chromomycosis	Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Pruritus	ORPHA:182
2Q32Q33 Microdeletion Syndrome	Sparse hair, Decreased testicular size, Fine hair	ORPHA:251019
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Ascites, Hypoalbuminemia	ORPHA:567546
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number	OMIM:615578
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Refsum Disease, Classic	Cardiomyopathy, Short fourth metatarsal, Elevated circulating phytanic acid concentration, Cardio...	OMIM:266500
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neonatal death, Dec...	OMIM:608013
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L...	OMIM:617713
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Pointed proximal second through fifth metacarpals, Ulnar deviation of the wrist, Co...	OMIM:253010
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Three M Syndrome 2	Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum, Slender l...	OMIM:612921
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, External genital hypoplasia, Large for gestational age, Tibial b...	ORPHA:96334
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H...	ORPHA:79083
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries, Truncal obesity, Sparse hair, High anterior hairline	ORPHA:284180
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy...	ORPHA:2348
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Decreased te...	OMIM:610644
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Large for gestational age, Cryptorchidism, Thin ribs, Mi...	ORPHA:169189
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
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hyp...	OMIM:612541
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal...	ORPHA:1452
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch...	ORPHA:93317
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, H...	OMIM:103285
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Abnorm...	ORPHA:667
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia	OMIM:184400
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Cryptorchidism	ORPHA:2872
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T...	ORPHA:163966
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Hypoalbuminemia, Anemia, Palmoplantar keratoderma	ORPHA:79396
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Palmar pits, Irregula...	OMIM:109400
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Small for gestational ...	ORPHA:2909
Fucosidosis	Barrel-shaped chest, Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Vacuolated lymphocytes...	OMIM:230000
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca...	OMIM:600920
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Nail pits, Onycholysis, Malar ...	ORPHA:85436
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenop...	ORPHA:39041
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Failure to thrive, Eczema, Hyperconvex nail	OMIM:619721
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, External genital hypoplasia, Precocious pu...	ORPHA:2588
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Mucopolysaccharidosis Type 7	Metatarsus adductus, Splenomegaly, Hepatitis, Enlarged thorax, Epiphyseal stippling, Abnormal hip...	ORPHA:584
Holzgreve Syndrome	Abnormal morphology of ulna, Abnormal mesentery morphology, Abnormal rib morphology, Hand polydac...	ORPHA:2167
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormality of the elbow, Abnormal rib morphology, Abnormal hip bone morphology	ORPHA:1486
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair	OMIM:614940
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Congenital hip dislocation, Atrial septal defect, Clinodactyly of the 5th fi...	ORPHA:373
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Fanconi Anemia, Complementation Group S	Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, Failure ...	OMIM:617883
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Spatulate ribs, Pectus excavatum, Splenomegaly, La...	OMIM:253220
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Ach...	OMIM:613812
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Failure to thrive	OMIM:620001
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypop...	OMIM:256040
Tetrasomy 12P	Sparse hair, Cachexia, Sparse eyebrow	ORPHA:884
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, H...	OMIM:259700
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placement of ...	OMIM:229850
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma	ORPHA:330064
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp...	OMIM:300219
Scarf Syndrome	Cryptorchidism, Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, W...	OMIM:312830
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test...	OMIM:129900
Riddle Syndrome	Erythema, Scaling skin, Weight loss	ORPHA:420741
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive	ORPHA:2316
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Webbed neck, Sparse hair, Dry...	OMIM:619745
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Small for gestational age, R...	OMIM:616229
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short 5th metacarpal	ORPHA:66518
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Arachnodactyly, Absent thumb, Rib fusion, Abnor...	ORPHA:500150
Joubert Syndrome 37	Sparse hair, Cryptorchidism, Decreased testicular size, Obesity	OMIM:619185
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Di...	ORPHA:231214
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Cranioectodermal Dysplasia 2	Cholangitis, Narrow chest, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Syndactyly, ...	OMIM:613610
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Failure to thrive	OMIM:619518
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin...	OMIM:612714
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number	ORPHA:352447
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Cr...	ORPHA:2879
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Small for gestational age	OMIM:610756
Chromosome 19Q13.11 Deletion Syndrome, Distal	Failure to thrive, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair,...	OMIM:613026
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Epiphyseal dysplasia, Splenomegaly, Metaphyseal widening, Split hand, Pectus carina...	OMIM:253200
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Failure to thrive, Nail dystrophy	OMIM:616353
Diethylstilbestrol Syndrome	Small for gestational age, Vaginal neoplasm, Hypospadias, Abnormal reproductive system morphology...	ORPHA:1916
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ...	ORPHA:168558
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia	ORPHA:75233
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive	OMIM:617988
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Tapered finger, Precocious puberty, Limited elbow extension, Hip dislocation, Obesi...	OMIM:301066
Ullrich Congenital Muscular Dystrophy 1	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ...	ORPHA:289548
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Decreased body weight, Failure to thrive, Abnormal hair morphol...	ORPHA:79474
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Erlenmeye...	OMIM:230800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low po...	OMIM:617506
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ...	ORPHA:439
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Anter...	OMIM:102700
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Eczema, Cryptorchidism, Low anter...	OMIM:601358
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ...	ORPHA:857
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Truncal obesity, Sparse hair, Decreased testicular size, Thick eyebrow	ORPHA:127
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,...	OMIM:114290
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Lymphadeno...	OMIM:617591
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling	OMIM:618250
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b...	ORPHA:83
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	ORPHA:391428
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri...	OMIM:271665
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Scaling skin, Decr...	ORPHA:3464
Eec Syndrome	Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Nail pi...	ORPHA:1896
Chromosome 5P13 Duplication Syndrome	Sparse hair, Small for gestational age, Low posterior hairline	OMIM:613174
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Thin ribs	OMIM:615368
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Palmoplantar ...	OMIM:605275
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Thick hair, Redundant skin, Cutis laxa, Excessive wrinkled skin, Coarse hair...	ORPHA:357074
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Brachydactyly, Decreased body weight, Thin ribs	OMIM:618265
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Cachexia, Cryptorchidism, Postaxial hand poly...	ORPHA:3380
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Hepatomegaly, Femur fracture, Splenomegaly, Hypocalcemic seizures, Anemia	OMIM:612301
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Mitochondrial swelling	OMIM:615595
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Achondrogenesis, Type Ii	Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Short long bone, Short ri...	OMIM:200610
Dysosteosclerosis	Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flared metaphysis, Short diaphyses, Short...	OMIM:224300
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, ...	ORPHA:2554
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Lateral clavicle hook, Pectus excavatum, Metaphyseal widening, Metatarsus adductu...	OMIM:182212
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial polydactyly, Fla...	OMIM:616300
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Failure to thrive, Decreased test...	OMIM:201100
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ...	ORPHA:1775
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Reactive Arthritis	Pustule, Weight loss, Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail	ORPHA:29207
Tetraamelia-Multiple Malformations Syndrome	Missing ribs, Cryptorchidism, Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, V...	ORPHA:3301
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem...	ORPHA:89936
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Thickened skin, Weight loss, Hyperkeratosis, Long eyelashes	ORPHA:79430
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, Pectus carinatum, Wris...	ORPHA:800
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Cryptorchidis...	ORPHA:221008
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi...	OMIM:613848
Severe Congenital Nemaline Myopathy	Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb	ORPHA:171430
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Periorbital wrinkles, Sparse eyebrow	OMIM:224900
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia, Weight loss	ORPHA:3163
Camurati-Engelmann Disease	Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ul...	ORPHA:1328
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con...	OMIM:613179
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Atrial septal defect, Atrioventricular canal de...	ORPHA:818
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Cryptorchidis...	ORPHA:221016
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ...	ORPHA:90186
Ramon Syndrome	Hyperkeratosis, Decreased body weight, Hypertrichosis	OMIM:266270
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A...	OMIM:619127
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Leprosy	Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Penetrating foot ulcers, Hyperkerat...	ORPHA:548
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly...	OMIM:107480
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Bili...	ORPHA:567983
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Fucosidosis	Failure to thrive, Generalized hyperkeratosis, Abnormality of the nail	ORPHA:349
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri...	ORPHA:920
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Thickened skin, Hypoplasia of the thymus, Nail dystrophy...	ORPHA:436252
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Failure to thrive, Abnormal mitochondrial shape	ORPHA:543470
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Short finger, Thin ribs	OMIM:312150
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Nail dysplasia, Sparse hair, Der...	OMIM:612199
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test...	OMIM:604292
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Pseudo-Torch Syndrome 2	Hepatomegaly, Secundum atrial septal defect, Thin ribs, Ascites, Thrombocytopenia	OMIM:617397
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
De Barsy Syndrome	Cryptorchidism, Cutis laxa, Excessive wrinkled skin, Thin skin, Sparse hair, Failure to thrive, D...	ORPHA:2962
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ...	ORPHA:77259
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Perrault Syndrome 4	Obesity, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary, Cubitus valgus	OMIM:615300
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Large for gestational age, Palmoplantar hyperkeratosis, Fine hair, Hydroce...	OMIM:280000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Abnormal heart morphology, Hypocalcemia, Aplasia of the uterus,...	ORPHA:2237
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ...	ORPHA:17
Mucolipidosis Type Ii	Hip contracture, Abnormal mitral valve morphology, Limited wrist movement, Splenomegaly, Hip disl...	ORPHA:576
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron...	OMIM:619991
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Avascular ne...	ORPHA:581
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Cryptorchidism, A...	ORPHA:2273
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of fin...	OMIM:601559
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Meckel Syndrome, Type 1	External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambiguous genitalia, male, Ab...	OMIM:249000
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti...	ORPHA:131
Mosaic Trisomy 8	Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, Narrow pelvis...	ORPHA:96061
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair, Decreased body weight	OMIM:616200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La...	OMIM:269700
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia...	ORPHA:2769
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes...	OMIM:615485
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Short finger, Thin ribs	OMIM:253290
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Aspergillosis	Eosinophilia, Abnormal rib morphology, Hepatitis, Abnormal long bone morphology, Neutropenia	ORPHA:1163
Beck-Fahrner Syndrome	Hip dysplasia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Prominent sternum, ...	ORPHA:254528
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Thoracic scoliosis, Thickened ribs, Epiphyseal dysplasia, Splenomegaly, Elbow flexi...	OMIM:252940
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Aplasia of the vagina, Apla...	ORPHA:457284
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Decreased body weight, Cutis laxa, Dermal translucency	OMIM:615349
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Scapular winging, Thoracic scoliosis, Hip contracture, Shoulder flexion contracture...	OMIM:620369
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Oeis Complex	11 pairs of ribs, Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous...	OMIM:258040
Leprechaunism	Facial hypertrichosis, Enlarged ovaries, Thickened skin, Hyperkeratosis, Decreased body weight, A...	ORPHA:508
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Failure to thrive, Epidermal acanthosis, Superficial dermal perivascular inflammat...	ORPHA:83617
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ...	ORPHA:363618
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv...	OMIM:619418
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma, Multinodular goiter	OMIM:620189
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline	OMIM:615510
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi...	ORPHA:432
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Atretic gallbladder, Sple...	ORPHA:30391
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl...	ORPHA:974
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Coxa valga, Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubulated long bo...	ORPHA:85184
Aredyld Syndrome	Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Coccidioidomycosis	Pericarditis, Abnormal sperm morphology, Eosinophilia, Abnormality of the spleen, Mediastinal lym...	ORPHA:228123
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Short Stature, Microcephaly, And Endocrine Dysfunction	Acanthosis nigricans, Cryptorchidism, Truncal obesity, Sparse hair	OMIM:616541
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan...	ORPHA:2710
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis	ORPHA:2583
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Monosomy 9Q22.3	Ovarian fibroma, Large for gestational age, Pectus excavatum, Palmar pits, Abnormal rib morpholog...	ORPHA:77301
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Polycys...	OMIM:608594
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Small for gestational age, Oligozoospermia, Small nail, Nail dysplasia, Sparse hair, Failure to t...	OMIM:614813
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Sparse hair, Scleroderma	ORPHA:96123
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno...	OMIM:269500
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Agel Amyloidosis	Pruritus, Cutis laxa, Nail dystrophy, Sparse hair, Dry skin	ORPHA:85448
Glass Syndrome	Sparse hair, Long eyelashes, Thin skin, Nail dysplasia	OMIM:612313
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Occipital Horn Syndrome	Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper co...	OMIM:304150
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Weill-Marchesani Syndrome 1	Ventricular septal defect, Broad palm, Pulmonic stenosis, Broad phalanges of the hand, Broad ribs...	OMIM:277600
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ...	OMIM:268400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concent...	OMIM:276700
Craniometadiaphyseal Dysplasia	Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Cubitus valgus, Genu varum	OMIM:269300
Osteogenesis Imperfecta	Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Pectus carinatum, Abnormal long...	ORPHA:666
Bohring-Opitz Syndrome	Ulnar deviation of the wrist, Cardiomegaly, Pectus excavatum, Bilateral wrist flexion contracture...	ORPHA:97297
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Myhre Syndrome	Ventricular septal defect, Small for gestational age, Overlapping toe, Pericardial effusion, Cryp...	OMIM:139210
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Fumarase Deficiency	Failure to thrive, Mitochondrial swelling, Pallor	OMIM:606812
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Vater/Vacterl Association	Syndactyly, Failure to thrive, Ventricular septal defect, Hypospadias, Absent radius, Short thumb...	OMIM:192350
Cole-Carpenter Syndrome	Crumpled long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Bowing of the long ...	ORPHA:2050
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating coppe...	OMIM:300972
Congenital Disorder Of Glycosylation, Type Iia	Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow	OMIM:212066
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Dry skin, Aplasia of the sweat glands, Sparse hair, Failure to thrive	OMIM:612132
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Broad clavicles, Aplasia/Hypopl...	OMIM:151050
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair	OMIM:257850
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Patchy alopecia, Breast aplas...	OMIM:181270
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Alagille Syndrome 1	Hypoplasia of the ulna, Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Hepat...	OMIM:118450
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Osteopathia st...	OMIM:300373
Radio-Renal Syndrome	Micromelia, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Short pa...	ORPHA:3015
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cryptorchidism, F...	OMIM:234100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal ext...	ORPHA:90794
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus carinatum, Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma,...	OMIM:312870
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number	ORPHA:263297
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Failure to thrive, Small for gestational age, Facial wrinkling, Sparse hair, T...	OMIM:606721
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Hennekam Syndrome	Lymphopenia, Finger syndactyly, Camptodactyly of finger, Pericardial effusion, Splenomegaly, Pulm...	ORPHA:2136
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Webbed neck, Sparse hai...	OMIM:613563
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Short metatarsal, Broad palm, Elbow flexion contract...	OMIM:608328
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Hawkinsinuria	Sparse hair, Failure to thrive	OMIM:140350
Charge Syndrome	Abnormal palmar dermatoglyphics, External genital hypoplasia, Secundum atrial septal defect, Hand...	OMIM:214800
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi...	ORPHA:363958
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Calcaneal epiphyseal stippling, Abnormal ossification involving the fe...	ORPHA:79345
Okamoto Syndrome	Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum...	ORPHA:2729
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Failure to thrive, Thin skin, Sparse eyebrow	OMIM:244450
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive	ORPHA:75857
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Bilateral talipes equinovarus, Bone marrow hypocellularity, Aplasia ...	OMIM:614083
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology	OMIM:118100
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Narrow chest	OMIM:614748
Osteogenesis Imperfecta, Type Iii	Tibial bowing, Slender long bone, Protrusio acetabuli, Thin ribs	OMIM:259420
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Decreased body weight, Thin ribs	OMIM:614833
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an...	OMIM:608156
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Eczema, Thin nail, Sparse hair, Dry skin	OMIM:617799
Weaver Syndrome	Deep-set nails, Thin nail, Cryptorchidism, Cutis laxa, Hydrocele testis, Fine hair, Sparse hair	OMIM:277590
Lymphatic Malformation 6	Pectus excavatum, Splenomegaly, Hydrocele testis, Atrial septal defect, Intestinal lymphangiectas...	OMIM:616843
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Abnormal rib morphology, Short foot, Micropenis, Thickened cortex of long bones, Broa...	ORPHA:488434
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Micromelia, Bif...	OMIM:256520
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc...	ORPHA:2232
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair...	OMIM:210710
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
White-Sutton Syndrome	Sparse hair, Failure to thrive, Obesity	OMIM:616364
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Pmm2-Cdg	Pericarditis, Hypogonadotropic hypogonadism, Pericardial effusion, Long fingers, Reduced thyroxin...	ORPHA:79318
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodacty...	ORPHA:217085
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Ehlers-Danlos Syndrome, Vascular Type	Pectus excavatum, Cryptorchidism, Cystocele, Foot acroosteolysis, Mitral valve prolapse, Osteolyt...	OMIM:130050
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Pancytopenia, Mitral valve calcification, Cachexia, Pectus excavatum, Abnormality ...	ORPHA:2072
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Hamamy Syndrome	Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Spa...	OMIM:611174
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Thin skin, Sparse hair, Pr...	OMIM:200110
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Pectus excavatum,...	ORPHA:2785
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Fine hair, Sparse hair	OMIM:618891
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodacty...	ORPHA:217093
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Weig...	ORPHA:29073
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Costello Syndrome	Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Sparse hair, Webbed nec...	OMIM:218040
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Decreased circulati...	OMIM:201750
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Pyknoachondrogenesis	Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ...	ORPHA:3003
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Limited elbow movement, Thin ribs, Rib osteolysis, Progressive clavicula...	OMIM:614008
Chromosome 17Q12 Deletion Syndrome	Long toe, Long fingers, Cryptorchidism, Upper limb undergrowth, Short foot, Ovarian cyst, Aplasia...	OMIM:614527
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia, Rocker bottom foot	OMIM:616258
Down Syndrome	Sparse hair, Obesity	ORPHA:870
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal toenail m...	ORPHA:2908
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Overlapping fingers, Failure to thrive in infancy, Overlapping toe,...	ORPHA:798
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair	ORPHA:251028
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands	OMIM:300291
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Thin ribs	OMIM:617952
Beckwith-Wiedemann Syndrome	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Large for gesta...	ORPHA:116
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis	OMIM:225400
Coffin-Siris Syndrome 1	Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Sandal gap,...	OMIM:135900
Cole-Carpenter Syndrome 2	Pectus excavatum, Narrow iliac wing, Thin ribs	OMIM:616294
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Bifid uterus, Abnormal reproductive system morphology, Unilateral brachydactyly, Apla...	ORPHA:1521
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora...	OMIM:610915
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormal rib morpholog...	ORPHA:2907
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Ovotes...	OMIM:309801
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Single transverse palmar crease, Limited elbow mo...	OMIM:261540
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, Abnormal sternum morphology, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender ...	OMIM:300967
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Aplasia of the uterus, Aplasia of th...	ORPHA:69085
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal tibia morphology, Abnormal...	ORPHA:138
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Menkes Disease	Hypopigmentation of hair, Thickened skin, Sparse hair, Woolly hair, Dry skin	ORPHA:565
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Small for gestational age, Decreased response to growth hormone stimulation test	OMIM:614114
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Thickened ribs, Pectus excavatum, Hepatosplenomegaly, Pectus carinatum, Genu valgum...	ORPHA:309282
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, Failure to thrive	ORPHA:444072
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Eczema, Synophrys, Sparse hair, Toenail dysplasia, Hirsutism	OMIM:300966
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Opitz-Kaveggia Syndrome	Facial wrinkling, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair	OMIM:305450
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Kagami-Ogata Syndrome	Large for gestational age, Coxa valga, Bell-shaped thorax, Coat hanger sign of ribs, Hepatoblasto...	ORPHA:254519
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Failure to thrive	ORPHA:137675
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Sparse h...	ORPHA:2108
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Decreas...	OMIM:602535
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Cockayne Syndrome B	Dry hair, Failure to thrive, Small for gestational age, Abnormal hair morphology, Cryptorchidism,...	OMIM:133540
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hypoplasia of the uterus	ORPHA:785
Lymphatic Filariasis	Orchitis, Hyperkeratosis, Vaginal hydrocele, Hydrocele testis	ORPHA:2035
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:365
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Clinodactyly, Short distal phalanx of finger	OMIM:615866
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Monosomy 9P	Hypospadias, Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postax...	ORPHA:261112
Singleton-Merten Syndrome 1	Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic...	OMIM:182250
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,...	OMIM:619727
Renal Cysts And Diabetes Syndrome	Hypospadias, Biliary tract abnormality, Elevated circulating creatinine concentration, Hypoplasia...	OMIM:137920
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Hypertriglyceridemia, Small for gestational age, Short femur, Hypospadia...	OMIM:264090
Kyphoscoliotic Ehlers-Danlos Syndrome	Synophrys, Thin skin, Follicular hyperkeratosis	ORPHA:536545
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Johanson-Blizzard Syndrome	Single transverse palmar crease, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, C...	OMIM:243800
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Palmar telangie...	OMIM:613471
Warburg-Cinotti Syndrome	Erythema, Thin skin, Follicular hyperkeratosis	OMIM:618175
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Pectus excavatum, Pectus carinatum, Uterine rupture	ORPHA:60030
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Cryptorchidism, Small for gestational age	OMIM:300661
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Parakeratosis	OMIM:278800
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Cryptorchidism, Abnormal rib morphology, Hip dislocation, Genu valgu...	ORPHA:534
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Seborrheic dermatitis	ORPHA:276280
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Recurrent skin infections, Decreased response to growth hormone stimulation te...	ORPHA:3455
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re...	ORPHA:95430
Craniolenticulosutural Dysplasia	Sparse hair, Cryptorchidism, Coarse hair, Brittle hair	OMIM:607812
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp...	OMIM:208150
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi...	ORPHA:51
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Dry skin	ORPHA:2750
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Cowden Syndrome	Enlarged polycystic ovaries, Palmoplantar keratoderma, Adenoma sebaceum, Failure to thrive, Gener...	ORPHA:201
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Eczema, Pseudohypoparathyroidism, Obesity, Sparse hair, Frontal hirsutism, F...	OMIM:617157
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Cockayne Syndrome A	Dry hair, Failure to thrive, Cryptorchidism, Sparse hair, Dry skin	OMIM:216400
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Hepati...	ORPHA:51608
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing ...	OMIM:610682
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Pallister-Killian Syndrome	Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Camptodactyly of 2nd-...	OMIM:601803
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Hypoplastic nipples, Nail...	OMIM:620186
Orofaciodigital Syndrome I	Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair	OMIM:311200
Fabry Disease	Hyperkeratosis	ORPHA:324
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Wrinkly Skin Syndrome	Redundant skin, Short nail, Cryptorchidism, Neonatal wrinkled skin of hands and feet, Palmoplanta...	OMIM:278250
Cranioectodermal Dysplasia 1	Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair	OMIM:218330
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorc...	OMIM:619841
Neurocardiofaciodigital Syndrome	Sparse hair, Failure to thrive, Small for gestational age, Sparse eyebrow	OMIM:619869
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Wrinkly Skin Syndrome	Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Cutis laxa, Excessive wr...	ORPHA:2834
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Thickened skin, O...	ORPHA:744
Scalp-Ear-Nipple Syndrome	Sparse hair, Abnormal fingernail morphology, Breast aplasia	ORPHA:2036
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Hypospadias, Micromelia, Cryptorchidism, Short toe, Bicuspid pulmonar...	ORPHA:709
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Bilateral cryptorchidism, Redundant skin in infancy, Dry skin, Cutis laxa, Fra...	OMIM:150230
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,...	OMIM:305600
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Abnormal heart valve morphology, Hypospadias, Pectus excavatum, Crypt...	ORPHA:286
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair, Cryptorchidism	OMIM:620005
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Roberts Syndrome	Sparse hair, Cryptorchidism	ORPHA:3103
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair	ORPHA:2636
Renpenning Syndrome 1	Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow	OMIM:309500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Cryptorchidism, Nail dysplasia	OMIM:616682
Branchiooculofacial Syndrome	Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo...	OMIM:113620
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
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia, Uterine rupture	ORPHA:649
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cryptorchidism, Stillbirth	OMIM:268300

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 Cst6

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 Cst6.

No publications found that use IMPC mice or data for Cst6.

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MGI Allele	Allele Type	Produced
Cst6^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cst6^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Cst6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cst6^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cst6 MGI:1920970

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Cst6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data