banner
Genes Phenotypes Help, News, Blog

Gene: Cux1 MGI:88568

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cut-like homeobox 1
Synonyms:
Cux,  CDP,  Cux-1,  Cutl1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Cux1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cux1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Pulmonary sequestration OMIM:618330

The table below shows human diseases predicted to be associated to Cux1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral... OMIM:114580
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... ORPHA:2722
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Death in childhood, Acrocyanosis, Abnormality of the nail OMIM:302000
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri... OMIM:612444
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad... ORPHA:52901
Spermatogenic Failure 28
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... OMIM:618086
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... ORPHA:499
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary... OMIM:612650
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Cryptorchidism, Bulbous nose, Increased circulating gonadotropin level, Hypogonadi... OMIM:300869
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis OMIM:618801
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Decreased nasal n... OMIM:612649
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:615500
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... OMIM:617091
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absent pubic hair, De... OMIM:614841
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:615504
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... OMIM:616481
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Recurrent l... OMIM:616726
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:616950
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:615505
Aredyld
Generalized hypotrichosis OMIM:207780
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Immotile cil... OMIM:614935
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow OMIM:606242
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Short stature, Recurrent bacterial infe... OMIM:616022
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh... OMIM:614874
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:616030
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Allergic rhinitis, Abnormalit... ORPHA:90368
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Cortisone Reductase Deficiency 1
Alopecia, Acne, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... OMIM:614897
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
X-Linked Intellectual Disability, Van Esch Type
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Agammaglobulinemia... OMIM:300400
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:108420
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Short stature, Prominent nasal bridge, Cryptorchidism, Increased ... ORPHA:163971
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Netherton Syndrome
Sparse scalp hair, Recurrent respiratory infections, Brittle hair, Recurrent skin infections, Bri... OMIM:256500
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Short stature, Sparse eyebrow, Hyp... ORPHA:1882
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy... OMIM:603554
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Yellow nails, Dyspne... ORPHA:662
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... ORPHA:572
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:66628
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormo... OMIM:275400
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Elevated circula... OMIM:273250
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b... ORPHA:202
Syndromic X-Linked Intellectual Disability 7
Short stature, Sparse body hair ORPHA:85274
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:179494
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308700
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea OMIM:617577
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Depressed nasal bridge, Recur... OMIM:614941
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Fibrodysplasia Ossificans Progressiva
Alopecia, Ectopic ossification in ligament tissue, Ectopic ossification in muscle tissue, Failure... ORPHA:337
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... ORPHA:70593
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair OMIM:618625
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Hurler-Scheie Syndrome
Rhinitis, Short stature, Generalized hirsutism ORPHA:93476
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... ORPHA:2251
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Depressed nasal br... ORPHA:432
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Aredyld Syndrome
Craniofacial hyperostosis, Short stature, Abnormal dental enamel morphology, Lipoatrophy, Cachexi... ORPHA:1133
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Alopecia, Streak ovary, Sparse eyebrow, Cryptorchi... ORPHA:2232
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly, Aplasia/H... ORPHA:2930
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Ane Syndrome
Alopecia, Decreased serum insulin-like growth factor 1, Short stature, Decreased response to grow... ORPHA:157954
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Immunodeficiency 102
Recurrent skin infections, Hypothyroidism, Severe varicella zoster infection, Recurrent upper res... OMIM:301082
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
L-Ferritin Deficiency
Alopecia OMIM:615604
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, De... OMIM:618300
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Alopecia, Atrophic gastritis, Recurrent skin infections, Chro... OMIM:616576
Bloom Syndrome
Recurrent herpes, Severe varicella zoster infection, Paronychia, Uveitis, Otitis media, Male infe... ORPHA:125
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Heyn-Sproul-Jackson Syndrome
Sparse hair, Intrauterine growth retardation, Severe short stature OMIM:618724
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Recurrent upper respira... ORPHA:261534
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature OMIM:619985
Alopecia Antibody Deficiency
Recurrent respiratory infections, Short stature, Abnormal eyelash morphology, Sparse hair, Sparse... ORPHA:1006
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Lo... ORPHA:3363
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Weight loss, Incr... ORPHA:100024
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Short stature, Sparse body hair ORPHA:261483
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... ORPHA:47612
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse hair ORPHA:2985
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... OMIM:615559
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... ORPHA:169154
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair ORPHA:79402
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... ORPHA:346
Alpha-Heavy Chain Disease
Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Anemia ORPHA:100025
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Hypergonadotropic hypogonadism, Abnormal nasal morpho... ORPHA:2850
Carboxypeptidase N Deficiency
Allergic rhinitis OMIM:212070
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Death in child... OMIM:619164
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polypo... ORPHA:244
Griscelli Syndrome, Type 2
Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts OMIM:607624
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... ORPHA:2325
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Growth delay, Nail dystroph... ORPHA:1867
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing hormone level, Spa... ORPHA:3044
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Paronychia, Recurrent candida infections, Hypogonadism, Decreased serum testostero... OMIM:201100
Congenital Short Bowel Syndrome
Sparse hair, Short stature ORPHA:2301
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Increased circulating ferritin concen... OMIM:619313
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis OMIM:603165
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Pneumonia, Anosmia, Bronchiectasis, Immotile cilia, Chronic rh... OMIM:244400
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Onychomycosis, Recurrent otitis me... OMIM:614468
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral c... ORPHA:99429
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen concentration, Short stat... ORPHA:90796
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Wide nose, Alopecia, Osteomyelitis, Eczema, Recurrent skin infe... OMIM:618282
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
49,Xyyyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Recurrent upper respira... ORPHA:99330
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly... OMIM:602450
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Short stature, Chronic pulm... OMIM:618131
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic meningitis, Re... ORPHA:95512
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Decreased response to gr... OMIM:307200
Eosinophilopenia
Allergic rhinitis OMIM:131430
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Neonatal asphyxia, Asthma, Erythroderma, Alopecia of scalp OMIM:608649
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic meningitis, Re... ORPHA:95513
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Short stature, Skin rash, Abnormal hair morphology, Abnormality of t... ORPHA:317
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Short stature, Low posterior hairline ORPHA:2183
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Diabetes mellitus, Cachexia, Growt... ORPHA:3242
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... ORPHA:755
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... OMIM:300310
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Alopecia, Severe short stature, Prominent nose OMIM:203550
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Premature ovarian insufficiency, Short stature, Hypergonadotropic hypogonadism, Recurre... ORPHA:2959
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Recu... ORPHA:293978
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Restrictive ventilatory defect, Nail dy... OMIM:615704
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Short stature, Anteverted nares, Elevated circulating... OMIM:305400
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... OMIM:613493
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia totalis, D... OMIM:615577
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... ORPHA:169079
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Mcdonough Syndrome
Cryptorchidism, Synophrys, Short stature, Cachexia ORPHA:2471
Wolman Disease
Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Adrenal insu... ORPHA:75233
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
H Syndrome
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Short stature, Diabetes mellitus,... ORPHA:168569
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Flynn-Aird Syndrome
Alopecia, Cachexia, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insufficiency, T... ORPHA:2047
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Diabetes mellitus, Short stature... OMIM:208900
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair, Short stature OMIM:618681
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eye... ORPHA:50944
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Diabetes mellitus, Rhinitis, Rhinorrhea ORPHA:157835
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Primary amenorrhea, Increased ser... ORPHA:247768
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... ORPHA:98813
Classic Mycosis Fungoides
Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Abnormality of the nail ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Filippi Syndrome
Postnatal growth retardation, Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Hy... OMIM:272440
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Streak ovary, Decreased response to growth hormone sti... ORPHA:3464
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis, White hair, Thick eyebrow ORPHA:896
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... OMIM:620265
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level OMIM:618806
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... ORPHA:3143
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Eczema, Postnatal growth retardation... OMIM:618985
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Decreased circulating cortisol level, Short stature, Acne, Premature thelarche, Isosexu... ORPHA:90795
Majeed Syndrome
Increased bone mineral density, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytos... ORPHA:77297
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair ORPHA:1839
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Failure to thrive, Short stature, Abnormality of... ORPHA:47
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair, Short stature ORPHA:1883
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Keutel Syndrome
Recurrent respiratory infections, Wide nose, Alopecia, Short stature, Depressed nasal bridge, Und... ORPHA:85202
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Short stature, Ab... ORPHA:2963
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Depressed na... OMIM:305100
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Osteoporosis, Increased bone density with cystic change... OMIM:136300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, T lymp... ORPHA:277
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Menorrhagia OMIM:617443
Gand Syndrome
Sparse hair OMIM:615074
Juvenile Temporal Arteritis
Conjunctivitis, Allergic rhinitis ORPHA:26137
Immunodeficiency 9
Death in infancy, Failure to thrive, Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Alopecia, Severe short stature, Thick nasal alae, Anteverted nares, Curly ey... ORPHA:3051
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Short stature, Spa... OMIM:300953
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... ORPHA:69735
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... OMIM:612692
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... OMIM:610921
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Flexion contracture, Cachexia ORPHA:157973
Christianson Syndrome
Death in early adulthood, Cachexia, Arthrogryposis multiplex congenita, Thick eyebrow ORPHA:85278
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... ORPHA:217346
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Short stature, Elevated circulating creatine kinase concentration, Generalized hirsutism ORPHA:1933
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Mediastinal lymphadenopathy, Ovarian neo... ORPHA:83469
Omenn Syndrome
Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopat... ORPHA:39041
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... OMIM:618048
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
46,Xy Partial Gonadal Dysgenesis
Vanishing testis, Decreased serum estradiol, Male infertility, Streak ovary, Elevated circulating... ORPHA:251510
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... ORPHA:33355
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Short stature, Sparse eyebrow OMIM:619989
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R... OMIM:607594
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Short stature, Inguinal hernia, Increased mean platelet v... ORPHA:84064
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Anauxetic Dysplasia 2
Short stature, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth retardation OMIM:617396
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Anemia OMIM:175500
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Ectodermal dysplasia OMIM:273390
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Sepsis, Ad... ORPHA:2552
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Prematurely aged appearance, Abnormal hair pattern, Highly arched eyebrow... ORPHA:1807
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa, Intrauterine growt... OMIM:614602
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Short stature, Anteverted nares, Wide nasal bridge, Intrauterine growth r... ORPHA:50812
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Short stature, Limb joint contracture, Hypogonadot... OMIM:612079
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomeli... OMIM:215100
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... OMIM:612843
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... OMIM:620282
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Osteoporosis... OMIM:615830
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Idiopathic Bronchiectasis
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... ORPHA:60033
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE ... OMIM:304790
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair ORPHA:177
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Intrauterine growth retardati... OMIM:616353
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Pgm3-Cdg
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Short stature, Eczema... ORPHA:443811
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Alopecia, Failure to thrive in infancy, Hyperthyroidism, Cachexia, A... ORPHA:37042
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Atrophic gast... OMIM:240300
Intellectual Developmental Disorder, Autosomal Recessive 5
Short stature, Postnatal growth retardation, Synophrys, Sparse hair, Thick eyebrow OMIM:611091
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Growth delay, Nail dys... OMIM:234050
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... OMIM:615816
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Death in childhood, Sparse hair, Intrauterine growth retardation, Cutaneous photose... OMIM:610756
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Arthritis, Infertility, Erectil... ORPHA:465508
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyeb... ORPHA:634
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Sézary Syndrome
Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal ... ORPHA:3162
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Short stature, Cryptorchidism, Osteoporosis, Fine hair, ... OMIM:613990
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Elevated carcinoembryonic antigen level, Adre... ORPHA:100083
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma ORPHA:330064
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth de... OMIM:616005
Ovarian Fibrothecoma
Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Increased serum testostero... ORPHA:314478
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair ORPHA:59303
Tetrasomy 12P
Sparse hair, Cachexia, Short stature, Sparse eyebrow ORPHA:884
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hyperekplexia 4
Respiratory failure OMIM:618011
Specific Granule Deficiency 2
Recurrent pneumonia, Hirsutism, Sepsis, Recurrent bacterial infections, Nail dysplasia, Recurrent... OMIM:617475
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... ORPHA:3453
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation OMIM:616801
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Onychomycosis, Convex nasal rid... OMIM:614564
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Nail dystroph... ORPHA:436252
Rodrigues Blindness
Sparse hair, Short stature, Fine hair OMIM:268320
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Anteverted nares, Depressed nasal bridge, Abnormality of t... ORPHA:75389
Hurler Syndrome
Recurrent respiratory infections, Anteverted nares, Short stature, Depressed nasal bridge, Wide n... ORPHA:93473
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Immunodeficiency 12
Short stature, Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Growth delay, Re... OMIM:615468
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidi... OMIM:612541
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... ORPHA:911
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Galactose Epimerase Deficiency
Growth delay, Splenomegaly, Weight loss ORPHA:79238
Alg12-Cdg
Recurrent respiratory infections, Wide nose, Decreased serum insulin-like growth factor 1, Promin... ORPHA:79324
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia ORPHA:298
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Cardiocranial Syndrome, Pfeiffer Type
Short stature, Abnormal hair whorl, Growth delay, Sparse hair, Intrauterine growth retardation ORPHA:2872
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... OMIM:618108
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, ... OMIM:212750
Desbuquois Syndrome
Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... ORPHA:1425
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibody level, Incre... ORPHA:397596
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... ORPHA:79126
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Death in childhood, Intrauterine gro... OMIM:214110
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair OMIM:608154
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Lamellar Ichthyosis
Recurrent respiratory infections, Short stature, Sparse hair, Abnormality of the nail, Aplasia/Hy... ORPHA:313
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Short stature, Postnatal growth retardation, Splenomegaly, Reduced bone mineral dens... OMIM:620210
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Alopecia, Short stature, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipo... ORPHA:93160
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Chronic rhinitis OMIM:615225
Perching Syndrome
Cyanosis OMIM:617055
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patchy alopecia, N... OMIM:615387
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Estrogen Resistance Syndrome
Acne, Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of seconda... ORPHA:785
Menkes Disease
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation OMIM:309400
Leishmaniasis
Rhinitis ORPHA:507
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... OMIM:618986
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Fi... ORPHA:228390
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia ORPHA:93941
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lympho... OMIM:301078
2Q32Q33 Microdeletion Syndrome
Sparse hair, Growth delay, Short stature, Fine hair ORPHA:251019
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Erythema, Neoplasm of the lung, Sparse hair ORPHA:659
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Choanal atresia, Absent eyelashes, Bulbous nose, ... ORPHA:2316
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Lymp... ORPHA:90156
Congenital Ichthyosiform Erythroderma
Alopecia, Short stature, Keratitis, Erythroderma, Abnormality of the nail ORPHA:79394
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Wide nose, Skin rash, Recurrent pneumonia, Chronic mucocutane... OMIM:147060
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Cough, Severe recurr... ORPHA:276
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, Severe short stature, B lymphocytopenia, Hypothyroidism OMIM:619851
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Premature gray... OMIM:127550
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Short stature, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sp... ORPHA:1787
Bresek Syndrome
Alopecia, Convex nasal ridge, Cryptorchidism, Growth delay, Neonatal death, Intrauterine growth r... ORPHA:85284
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Rabson-Mendenhall Syndrome
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Hypothyro... ORPHA:769
Neuralgic Amyotrophy
Acrocyanosis, Short stature ORPHA:2901
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Alopecia, Brittle hair, D... OMIM:608612
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Ectodermal dysplasi... ORPHA:3253
Holocarboxylase Synthetase Deficiency
Growth delay, Alopecia, Thrombocytopenia, Weight loss ORPHA:79242
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Decreased circulating total IgM, Monocytosis, B lymphocytopenia, Thro... OMIM:619281
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Erythroderma OMIM:618840
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Even-Plus Syndrome
Sparse hair, Synophrys, Severe short stature, Highly arched eyebrow OMIM:616854
Immunodeficiency 54
Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic... OMIM:609981
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Retrograde ejaculation, Rhinitis, Hyperinsulinemia ORPHA:230
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Androgen Insensitivity Syndrome
Sparse pubic hair, Absent facial hair, Sparse axillary hair OMIM:300068
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia ORPHA:1515
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Recurrent upper respiratory tract infections, Short stature ORPHA:284180
Noonan Syndrome 6
Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Sparse hair OMIM:613224
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c... OMIM:618186
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus, Cachexia ORPHA:97229
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Synophr... ORPHA:85293
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Frontal balding, Precocious puberty,... ORPHA:786
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Osteolysis, Metacarpal osteolysis, Carpal osteolysis ORPHA:2774
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Dyskeratosis Congenita, Digenic
Alopecia, Failure to thrive, Short stature, Sparse eyelashes, Decreased circulating total IgM, Na... OMIM:620040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope... OMIM:102700
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Johanson-Blizzard Syndrome
Death in infancy, Alopecia, Diabetes mellitus, Short stature, Abnormal hair pattern, Intrauterine... ORPHA:2315
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Recurrent respiratory infections, Cutis marmorata, Erythema, Lived... OMIM:615934
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Short stature, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste... ORPHA:88630
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Short stature, Fine hair, Growth delay, Delayed puberty, Sparse hair... OMIM:616817
Satoyoshi Syndrome
Alopecia, Short stature, Alopecia universalis, Amenorrhea OMIM:600705
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating f... OMIM:235200
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short stature, Thick hair, Postnatal growth retardation, Abnormal subcutaneous fat tissue distrib... ORPHA:357074
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Sparse hair, Alopecia of scalp OMIM:615280
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Intrauterine growth retardation, Bronchiectasis, Aspiration pneumonia OMIM:618253
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Abnormal fingernail morphology, Short stature, Fine hair, Spars... ORPHA:1806
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Growth delay, Decreased circulating total IgM, T lymph... OMIM:619510
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Bilateral cryptorchidis... ORPHA:1772
Pulmonary Blastoma
Weight loss ORPHA:64741
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... OMIM:600785
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... ORPHA:371364
Trichothiodystrophy 1, Photosensitive
Death in infancy, Brittle hair, Trichoschisis, Short stature, Fine hair, Telangiectasia, Fragile ... OMIM:601675
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sparse eyebrow, Cryptor... ORPHA:495875
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Nonproductive cough, Fulminan... ORPHA:319213
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Short stature OMIM:268020
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Trichorhinophalangeal Syndrome, Type I
Recurrent respiratory infections, Slow-growing hair, Short stature, Thin nail, Concave nail, Leuk... OMIM:190350
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Degcags Syndrome
Prominent nose, Synophrys, Low anterior hairline, Premature graying of hair, Intrauterine growth ... OMIM:619488
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B lymphocyto... OMIM:614069
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... ORPHA:2688
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Alstrom Syndrome
Alopecia, Chronic active hepatitis, Hypergonadotropic hypogonadism, Short stature, Decreased resp... OMIM:203800
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair, Moderate postnatal growth retardation OMIM:118650
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Sparse body hair ORPHA:2234
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Lymphadenopat... ORPHA:2221
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi... ORPHA:813
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di... ORPHA:563609
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Dorsocervical fat pad, Proportionate short stature, Synophrys, Low anterior hairline, Fine hair, ... ORPHA:391408
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... ORPHA:897
Congenital Pulmonary Lymphangiectasia
Growth delay, Pleural effusion, Cyanosis ORPHA:2414
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Cleft ala nasi OMIM:164180
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Asthma, Skin rash, Allergic rhinitis OMIM:612714
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Scheie Syndrome
Rhinitis ORPHA:93474
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Pneumothorax, Hypoxemia, Abnormal pulmonary artery mo... ORPHA:2257
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Retinal telangiectasia, Postnatal growth retardation, Fine hair, Premature graying... OMIM:612199
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... OMIM:620133
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Elevated circulating creatine kinase concentration, Cachexia ORPHA:42
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Nail dystrophy, Na... OMIM:226600
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Nail dystrophy, Emphysema, Pulmonary fibrosis OMIM:620365
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... OMIM:615190
Fanconi Anemia, Complementation Group S
Sparse hair, Long eyelashes, Low anterior hairline, Short stature OMIM:617883
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Scarring, Leukocytosis,... OMIM:308300
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... OMIM:241410
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Cellulitis ORPHA:3165
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Short stature, Splenomegaly, Loss of eyel... OMIM:263700
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Gonadoblastoma
Hirsutism, Increased serum testosterone level ORPHA:206484
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss ORPHA:1164
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Anhidro... OMIM:129400
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Short stature, Allergic rhinitis, Diabetes mellitus, Recurrent v... OMIM:176690
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Low anterior hairline, Wrist flexion contract... ORPHA:800
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hai... OMIM:158310
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Iridocyclitis, Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes mellitus, Ty... ORPHA:412057
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis OMIM:613496
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... OMIM:224900
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Sparse scalp hair, Alopecia, Loss of subcutaneous adipose tissue in limbs, Lipodystro... OMIM:248370
Obesity And Hypopigmentation
Red hair OMIM:620195
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... ORPHA:1005
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
46,Xx Gonadal Dysgenesis
Short stature, Sparse pubic hair, Pulmonary fibrosis, Abnormality of secondary sexual hair, Delay... ORPHA:243
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Eec Syndrome
Short stature, Decreased response to growth hormone stimulation test, Slow-growing hair, Abnormal... ORPHA:1896
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Short stature, Sparse lateral eyebrow OMIM:190351
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... ORPHA:2905
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Short stature, Fragile nails OMIM:242150
Whipple Disease
Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hypothyroidism, Anemia ORPHA:3452
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia, Inguinal her... OMIM:613177
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Fail... OMIM:614700
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Growth delay OMIM:619980
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat, Osteolysis, Growth delay, Generalized osteoporosis OMIM:176670
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Leukopenia, Hyp... ORPHA:2298
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Acrocyanosis, Long eyebrows OMIM:614407
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Absence of subcutaneous fat, Corneal scarring, Death in adolescen... OMIM:610965
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Short stature, Progeroid facial appearance OMIM:617763
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM,... ORPHA:90362
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Alopecia totalis, ... OMIM:618775
Follicular Lymphoma
Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis ORPHA:60041
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Kury-Isidor Syndrome
Alopecia, Anteverted nares, Growth delay, Recurrent otitis media, Hypertrichosis OMIM:619762
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... ORPHA:227990
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Osteomyelitis, Chronic rhinitis due to narrow nasal airway OMIM:259710
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, A... ORPHA:647
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... ORPHA:227982
Camurati-Engelmann Disease
Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Craniofacial osteosclerosi... ORPHA:1328
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... OMIM:618187
Trichorhinophalangeal Syndrome Type 1
Short stature, Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... ORPHA:189427
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... ORPHA:2269
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Breathing dysregulation OMIM:618232
Seckel Syndrome
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, ... ORPHA:808
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Lo... ORPHA:861
Gapo Syndrome
Alopecia, Sparse eyelashes, Short stature, Dysmenorrhea, Anteverted nares, Sparse eyebrow, Early ... ORPHA:2067
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cranioectodermal Dysplasia 3
Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Ectodermal dysplasia, Sparse hair, ... OMIM:614099
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Lethal Congenital Contracture Syndrome 10
Omphalocele, Intrauterine growth retardation, Hypoplasia of the thymus OMIM:617022
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Thalidomide Embryopathy
Short stature, Chronic rhinitis ORPHA:3312
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... ORPHA:90794
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Prominent nasal bridge, Cryptorchidism, Patchy alopecia, Decreased testicular size ORPHA:85279
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:330012
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Craniosynostosis, Cryptorchidism, Thromb... OMIM:620005
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabeculae, Alopecia universa... OMIM:277440
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Short stature, Sparse eyelashes, Sparse eyebrow, Postnatal g... OMIM:613026
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Blepharitis, Alopecia totalis OMIM:300918
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Sparse eyelashes, Alopecia totalis, Anteverted nares, ... OMIM:613451
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Joubert Syndrome 37
Sparse hair, Short stature OMIM:619185
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Meningitis, Uveitis, Restrictive ventilatory defect, Pleural ef... ORPHA:36412
Tuberculosis
Weight loss ORPHA:3389
Ruijs-Aalfs Syndrome
Premature graying of hair, Short stature, Sparse hair OMIM:616200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Short stature, Underdeveloped nasal alae, Absent eyelashes, Cryptorchid... ORPHA:166035
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Fine hair, Pulmonary hypoplasia, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia o... OMIM:614091
Satoyoshi Syndrome
Short stature, Abnormal hair morphology, Nephrogenic diabetes insipidus, Sparse or absent eyelash... ORPHA:3130
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Hereditary Methemoglobinemia
Cyanosis, Abnormality of the nail ORPHA:621
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... OMIM:617237
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Weight lo... ORPHA:3226
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Hepatitis ORPHA:525
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... OMIM:615966
Mullerian Aplasia And Hyperandrogenism
Acne, Increased circulating dehydroepiandrosterone-sulfate concentration, Primary amenorrhea, Inc... OMIM:158330
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Frontal hirsutism, Cyanosis ORPHA:3304
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Failure to th... ORPHA:974
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Premature skin wrinkling, Sparse hai... ORPHA:363618
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Robinow Syndrome
Decreased serum testosterone concentration, Short stature, Anteverted nares, Depressed nasal brid... ORPHA:97360
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Premature Ovarian Failure 8
Streak ovary, Decreased serum estradiol, Elevated circulating follicle stimulating hormone level,... OMIM:615723
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyelashes, Lipoatrophy, Decreased serum leptin... OMIM:614008
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Alopecia, Short s... ORPHA:1775
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Alopecia, Diabetes mellitus, Hypergonadotropi... ORPHA:273
Eosinophilic Gastroenteritis
Asthma, Atopic dermatitis, Allergic rhinitis ORPHA:2070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Short stature, Thick eyebrow ORPHA:127
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... OMIM:601495
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Recurrent o... OMIM:613179
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct proliferation, Sp... OMIM:607626
Short Syndrome
Inguinal hernia, Alopecia, Severe short stature, Abnormal dental enamel morphology, Lipodystrophy... ORPHA:3163
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Scarring, Craniosynostosis, Onychogryposis, Decreased circulating antibody level, Growt... ORPHA:79396
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Short stature, Hyperconvex nail OMIM:619721
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep... OMIM:137940
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Mixed Connective Tissue Disease
Hemolytic anemia, Alopecia, Mediastinal lymphadenopathy, Splenomegaly, Osteolysis, Lymphadenopath... ORPHA:809
Testicular Agenesis
Increased circulating gonadotropin level, Decreased serum testosterone concentration ORPHA:325124
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb... ORPHA:1010
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... OMIM:261990
Maternal Uniparental Disomy Of Chromosome 6
Eczema, Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Co... ORPHA:96181
Agel Amyloidosis
Respiratory tract infection, Nail dystrophy, Sparse hair, Bruising susceptibility, Dermatological... ORPHA:85448
Monosomy 18P
Alopecia, Short stature, Wide nasal bridge, Low posterior hairline, Hypothyroidism ORPHA:1598
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Abnormal fingernail morphology, Nail dystrophy, Abnormality of ... ORPHA:678
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger... OMIM:268130
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Prominent nasal bridge, Breast hypoplasia, Nail pits,... ORPHA:978
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Gomez-Lopez-Hernandez Syndrome
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis OMIM:601853
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Apnea, Abnormality of hair texture, Growth delay, Chronic rhini... ORPHA:667
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Anteverted nares, Depressed nasal bridge,... ORPHA:221139
Mogs-Cdg
Alopecia, Fair hair, Hirsutism, Hepatosplenomegaly, Decreased circulating antibody level, Decreas... ORPHA:79330
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... ORPHA:514
Breath-Holding Spells
Cyanosis OMIM:607578
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Hypomelanosis Of Ito
Alopecia OMIM:300337
Hawkinsinuria
Sparse hair OMIM:140350
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Short stature, Adrenal hypopl... OMIM:617053
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
47,Xyy Syndrome
Male infertility, Cryptorchidism, Asthma, Increased circulating gonadotropin level, Oligozoosperm... ORPHA:8
Immunodeficiency 10
Recurrent bacterial infections, Nail dysplasia, Recurrent infections OMIM:612783
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Short stature, Sparse eyelashes... ORPHA:2909
Pediatric Systemic Lupus Erythematosus
Alopecia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyt... ORPHA:93552
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Macs Syndrome
Alopecia, Short stature, Sparse eyebrow, Bronchiectasis, Sparse hair, Bruising susceptibility OMIM:613075
Thymic Neuroendocrine Tumor
Osteopenia, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet ... ORPHA:97289
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, P... ORPHA:275761
Alg1-Cdg
Respiratory failure ORPHA:79327
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Adams-Oliver Syndrome 2
Alopecia, Depressed nasal bridge, Bulbous nose, Low anterior hairline, Small nail OMIM:614219
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis OMIM:609638
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Pustule, Paronychia, Cheilitis... ORPHA:37
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Fine h... OMIM:257980
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Intrauterine growth retardation, Prominent superficial blood vessels, Short stature OMIM:219150
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Short stature, Obesity, Abnormal granulocyte morphology, Abnormal circulating creatine ... ORPHA:98907
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Abnormal lung lobation, Growth delay, Severe intrauterine growth retar... OMIM:614114
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Recurrent ear infections, Hypoplas... ORPHA:544488
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Weight loss, Severe short-limb dwarfism, Hernia, Failure to thrive, Anemia ORPHA:1842
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
De Barsy Syndrome
Recurrent sinopulmonary infections, Short stature, Progeroid facial appearance, Postnatal growth ... ORPHA:2962
Tarp Syndrome
Cyanosis, Abnormal hair pattern, Pulmonary hypoplasia, Intrauterine growth retardation, Thick eye... ORPHA:2886
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis OMIM:612840
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... ORPHA:199241
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Sepsis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Recurrent bacterial infe... OMIM:308230
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Increased circulating antibod... ORPHA:411593
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Abnormal hair morphology, Osteolysis, Generalized lipodystrophy, Osteoly... ORPHA:90154
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Juvenile Polyposis Of Infancy
Refractory anemia, Short stature, Cachexia, Anemia, Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Eczema, Asthma OMIM:618162
Rhabdoid Tumor
Thrombocytopenia, Weight loss, Anemia, Lymphadenopathy ORPHA:69077
Pachyonychia Congenita
Respiratory distress, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Finger... ORPHA:2309
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... ORPHA:411696
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Incontinentia Pigmenti
Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Abnormal fingernail morphology, Abno... ORPHA:464
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Short stature, ... OMIM:264090
Abcd Syndrome
White eyelashes, White eyebrow, Albinism, Large for gestational age, Neonatal death, Polycythemia OMIM:600501
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Ectodermal dysplasia,... OMIM:106260
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Hyperoxemia, Pulmonary sequestration, Emphysema ORPHA:70589
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Aplasia of the eccrine sweat gl... OMIM:300291
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Alopecia, Sparse eyelashes, Sparse eyebrow, Death in adolescence, Nail ... OMIM:605676
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt... OMIM:618644
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Sparse scalp hair, Anhidrotic ectodermal dysplasia, Aplasia of ... OMIM:612132
Meier-Gorlin Syndrome 4
Short stature, Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema,... OMIM:613804
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Short stature, Alopecia totalis... ORPHA:221008
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Hypoxemia, Honeycomb l... ORPHA:79127
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Absent pubertal growth spurt, Sparse eyebrow, Fine hair, Ne... OMIM:250250
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Pleural effu... OMIM:612387
Trisomy 18
Omphalocele, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, C... ORPHA:3380
46,Xy Sex Reversal 6
Hirsutism, Sparse axillary hair OMIM:613762
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret... OMIM:616113
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Scarring OMIM:247100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Birth length less than 3rd percentile, Recurrent bacterial infection... OMIM:244460
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chro... OMIM:615607
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Supernumerary nipple ORPHA:3224
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Recurrent respiratory infections, Growth delay OMIM:615508
Biotinidase Deficiency
Respiratory distress, Alopecia, Apnea, Skin rash, Recurrent viral infections, Recurrent candida i... ORPHA:79241
Chromosome 5P13 Duplication Syndrome
Sparse hair, Low posterior hairline OMIM:613174
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail OMIM:242100
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Kikuchi-Fujimoto Disease
Alopecia, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Thr... ORPHA:50918
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eye... ORPHA:35173
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Oste... ORPHA:90153
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... ORPHA:2902
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Adrenoleukodystrophy
Primary adrenal insufficiency, Alopecia, Hypogonadism, Impotence OMIM:300100
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Patchy alopecia, Spar... OMIM:302960
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dry hair, Severe short stature, Diabetes mellitus, Cachexia,... ORPHA:191
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia ORPHA:300605
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Craniosynostosis, Testicul... ORPHA:744
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis, Osteolysis, W... ORPHA:324964
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Fine hair, Excessive wrinkled skin, Sparse hair, Intrauterine growth... OMIM:614438
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Cln3 Disease
Acne, Hirsutism, Increased circulating androgen concentration ORPHA:228346
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Choanal atresia, Proportionate short stature, Abnormality of hair tex... ORPHA:2108
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Nicolaides-Baraitser Syndrome
Recurrent respiratory infections, Dry hair, Absent eyebrow, Sparse scalp hair, Short stature, Low... OMIM:601358
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Sparse body hair ORPHA:3068
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature ORPHA:3004
Congenital Disorder Of Glycosylation, Type Iia
Short stature, Postnatal growth retardation, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:212066
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Fraser Syndrome 2
Hypoplasia of the thymus, Low anterior hairline OMIM:617666
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Small for gestation... OMIM:268400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Biliary hyperplasia, Cryptorchidism... ORPHA:83617
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Noonan Syndrome 14
Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Sparse hair, Bruising suscepti... OMIM:619745
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality ... ORPHA:391487
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Wide nasal bridge OMIM:616367
Rett Syndrome
Short stature, Cachexia OMIM:312750
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Telangiectasia of the skin, Erythema, A... ORPHA:221
Pseudomyxoma Peritonei
Weight loss, Hernia, Lymphadenopathy ORPHA:26790
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi... ORPHA:79474
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy OMIM:618373
Huntington Disease-Like 2
Weight loss ORPHA:98934
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Short stature, Alopecia, Sparse ey... OMIM:305000
Immunodeficiency 31C
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... OMIM:614162
Igg4-Related Aortitis
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... ORPHA:449400
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Short stature, Abnormal dental enamel morph... ORPHA:567
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Short stature, Alopecia totalis... ORPHA:221016
Hermansky-Pudlak Syndrome 2
Albinism, Recurrent pneumonia, Wide nasal bridge, Recurrent bacterial infections, Periodontitis, ... OMIM:608233
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... ORPHA:2969
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, Pannic... ORPHA:508542
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Mannosidosis, Alpha B, Lysosomal
Depressed nasal ridge, Low anterior hairline, Growth delay, Recurrent bacterial infections, Thick... OMIM:248500
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Bartsocas-Papas Syndrome
Alopecia totalis, Underdeveloped nasal alae, Hypoplastic toenails, Sparse or absent eyelashes, Sh... ORPHA:1234
Castleman Disease
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, El... ORPHA:160
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thy... ORPHA:109
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Leigh Syndrome
Alopecia, Multiple joint contractures, Growth delay, Neutropenia, Intrauterine growth retardation... ORPHA:506
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Abscess, Bone cyst, Weight loss, Ovarian cyst, Incr... ORPHA:400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Short stature ORPHA:50814
Congenital Fibrinogen Deficiency
Abnormality of the subungual region, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Short stature, Precocious puberty, Growth delay, Hypophosphatemic rickets OMIM:163200
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Grow... ORPHA:2072
Bainbridge-Ropers Syndrome
Death in infancy, Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Growth delay... OMIM:615485
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Short stature, Fine hair, Delayed puberty, Sparse hair, Intrauterine growth retarda... OMIM:618891
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Pleural effusion, Hirsutism, Increased serum testostero... ORPHA:64739
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Scarf Syndrome
Sparse hair, Hypoplastic nipples, Low posterior hairline ORPHA:3134
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Increased ... ORPHA:90790
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures... ORPHA:96123
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty ORPHA:2326
Gm1 Gangliosidosis
Inguinal hernia, Short stature, Camptodactyly of finger, Splenomegaly, Hepatosplenomegaly, Weight... ORPHA:354
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Short stature, Highly arched eyebrow, Postnatal growth retardation, Fine hair, Low posterior hair... OMIM:613563
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen... ORPHA:520
Vici Syndrome
Recurrent respiratory infections, Wide nose, Hypopigmentation of hair, Depressed nasal bridge, Al... OMIM:242840
Pleural Mesothelioma
Weight loss, Lymphadenopathy ORPHA:50251
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Short stature, Fine hair OMIM:257850
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Addison Disease
Normocytic anemia, Hypoparathyroidism, Failure to thrive, Primary testicular failure, Decreased c... ORPHA:85138
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Weight loss ORPHA:33276
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Recurrent pneumonia, Nail dystrophy, Sparse hair, Fragile skin, Alopecia universalis ORPHA:158668
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Recurrent pneumonia OMIM:616449
Naxos Disease
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Fragile skin, Onycholysis, Nail dystrophy, ... OMIM:601214
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Digeorge Syndrome
Inguinal hernia, Parathyroid agenesis, Short stature, Femoral hernia, Decreased circulating parat... OMIM:188400
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Alopecia, Sparse eyelashes, Sparse eyebrow, Failure to thrive OMIM:610768
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Short stature, Adrenal hypoplasia, Flexion contracture, Epiphyseal stippling, Mild intr... OMIM:308050
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia OMIM:253270
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Growth delay, Recurrent bacterial infections, Inflammation of the large in... OMIM:615895
Wilson Disease
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia ORPHA:905
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Proportionate short statur... OMIM:234100
Buerger Disease
Acrocyanosis ORPHA:36258
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Anomalous pulmonary venous return ORPHA:860
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Failure to thrive, Decreased circulatin... ORPHA:199299
Marshall Syndrome
Sparse hair, Short stature, Sparse eyelashes, Sparse eyebrow ORPHA:560
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis, Short stature ORPHA:3426
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Short stature, Abnormal eyelash morphology, Low posterior hairli... ORPHA:1340
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia ORPHA:1647
Lysinuric Protein Intolerance
Short stature, Intraalveolar phospholipid accumulation, Fine hair, Sparse hair, Pulmonary hemorrhage OMIM:222700
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Absent toenail, Respiratory failure, Absent fingernail, Congeni... ORPHA:158687
Boutonneuse Fever
Respiratory failure ORPHA:83313
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Biotinidase Deficiency
Alopecia, Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Tachypnea, Conjunct... OMIM:253260
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Giant Cell Arteritis
Alopecia, Pericarditis, Epistaxis, Recurrent pharyngitis, Meningitis, Arthritis, Cough, Diabetes ... ORPHA:397
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Pulmonary Arteriovenous Malformation
Cyanosis, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage ORPHA:2038
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Short stature, Highly arched eyebrow, Low posterior hairline, Coar... OMIM:617506
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Hypopigmentation of hair, Recurrent respiratory infections, ... ORPHA:167
Gapo Syndrome
Prominent scalp veins, Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipp... OMIM:230740
Relapsing Polychondritis
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Dyspnea, Myocarditis, Hepat... ORPHA:728
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Ellis Van Creveld Syndrome
Abnormal hair quantity, Abnormal fingernail morphology, Abnormal hair morphology, Hypoplastic toe... ORPHA:289
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Short stature, Jaundice, Fine hair, Sparse hair, Woolly hair, Trichorrh... OMIM:222470
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Scarf Syndrome
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline OMIM:312830
Glass Syndrome
Sparse hair, Nail dysplasia, Long eyelashes, Short stature OMIM:612313
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Ectodermal dysplasi... OMIM:103285
Chronic Hiccup
Weight loss ORPHA:396
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Prominent nose, Increased circulating androgen concentration, Premature adrena... ORPHA:2976
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Rhizomelia, Growth delay, Small nail, Nail dysplasia, Sparse hair, Breast hypoplasia OMIM:614813
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Slender build, Cachexia, Weight loss OMIM:603041
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Short stature OMIM:615349
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ... OMIM:619321
Encephalocraniocutaneous Lipomatosis
Alopecia, Cryptorchidism, Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma OMIM:613001
Hereditary Central Diabetes Insipidus
Growth delay, Diabetes insipidus, Weight loss ORPHA:30925
Teebi-Shaltout Syndrome
Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair OMIM:272950
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair, Intrauterine growth retardation, Short stature, Disproportionate short-limb short st... OMIM:616541
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Takayasu Arteritis
Anemia, Weight loss ORPHA:3287
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Trichotillomania
Alopecia OMIM:613229
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Stuve-Wiedemann Syndrome 1
Death in infancy, Short stature, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Spa... OMIM:601559
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Dravet Syndrome
Cyanotic episode ORPHA:33069
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hypopigmentation of hair, Spontaneous, recurrent epistaxis, ... OMIM:214500
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Lymph node hypoplasia, De... OMIM:300755
Familial Thrombocytosis
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thr... ORPHA:71493
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Intrauterine gr... OMIM:619487
Kid Syndrome
Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring alopecia of scalp, Postna... ORPHA:477
Congenital Tracheomalacia
Cyanosis, Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Rec... ORPHA:95430
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Mucolipidosis Type Ii
Hip contracture, Dry hair, Inguinal hernia, Short stature, Craniosynostosis, Postnatal growth ret... ORPHA:576
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Bone Marrow Failure Syndrome 3
Short stature, Nail dystrophy, Small nail, Sparse hair, Intrauterine growth retardation, Aplasia/... OMIM:617052
Nodular Non-Suppurative Panniculitis
Splenomegaly, Panniculitis, Weight loss ORPHA:33577
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Postnatal growth retardation, Synophrys, Sparse hair, Intrauterine growth retardation, Toenail dy... OMIM:300966
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Thyroiditis, Weight loss, Lymphadenopathy, Lymphocytosis ORPHA:139402
Isaacs Syndrome
Weight loss ORPHA:84142
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Down Syndrome
Sparse hair, Prematurely aged appearance ORPHA:870
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Nasal polyposis, R... ORPHA:586
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Postnatal growth retardation, Fine hair ORPHA:251028
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Alopecia, Recurrent urinary tract infections, Recurrent skin infections, Pn... ORPHA:79404
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ... ORPHA:29073
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Excessive skin w... ORPHA:2834
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis ORPHA:98914
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Cyanosis OMIM:619879
Hamamy Syndrome
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... OMIM:611174
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Sarcoidosis
Hemolytic anemia, Alopecia, Hyperthyroidism, Parotitis, Eosinophilia, Scarring, Diabetes insipidu... ORPHA:797
Infantile Systemic Hyalinosis
Severe short stature, Growth delay, Recurrent bacterial infections, Abnormality of the adrenal gl... ORPHA:2176
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... OMIM:619381
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Pancreatic cysts, Bone cyst, Weight loss, Abnormal spleen morphology... ORPHA:284
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dry hair, Severe short stature, Prematurely aged appearance,... OMIM:133540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Epistaxis, Irregular menstruation, Enterocolitis, Gout, Ulcerative colitis, Growth... ORPHA:79259
Anaplastic Thyroid Carcinoma
Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Excessive wrink... ORPHA:920
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Congenital contracture OMIM:619036
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology, Urticaria, Acro... ORPHA:183
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Pheochromocytoma, Elevated circulating... ORPHA:1332
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Knee flexion contracture, Intraut... ORPHA:3208
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Short stature OMIM:607812
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Absent eyelashes, Low posterior hai... OMIM:115150
Shwachman-Diamond Syndrome
Sinusitis, Short stature, Eczema, Pneumonia, Skin rash, Osteomyelitis, Decreased response to grow... ORPHA:811
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Hirschsprung Disease
Neoplasm of the thyroid gland, Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Short stature, Loose anagen hair, Long eyelashes, Sparse hair OMIM:607721
White-Sutton Syndrome
Sparse hair, Intrauterine growth retardation, Short stature OMIM:616364
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Sparse axillary hair, Adrenal hypoplasia... ORPHA:95409
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Fine hair, Sparse ... ORPHA:444072
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... ORPHA:363958
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Recurrent pneumonia, Growth delay, Severe postnatal growth retardat... OMIM:252500
Colchicine Poisoning
Alopecia, Leukocytosis ORPHA:31824
Focal Dermal Hypoplasia
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... ORPHA:2092
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Ventral hernia, Alopecia, Widened atrophic scar, Inguinal hernia, Diabetes mellitus, ... ORPHA:536532
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:129900
Goldberg-Shprintzen Syndrome
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow OMIM:609460
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Spo... OMIM:606721
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... ORPHA:420741
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Cryptorchidism, Flexion contracture, Patchy alopecia, Decreased body weight, Chole... OMIM:300534
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Huntington Disease-Like 2
Weight loss OMIM:606438
Cranioectodermal Dysplasia 1
Recurrent respiratory infections, Slow-growing hair, Short nail, Rhizomelia, Thin nail, Fine hair... OMIM:218330
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha... ORPHA:2710
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Short stature, Death in childhood OMIM:300661
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Short stature, Eczema, Rec... OMIM:308205
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:536
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... ORPHA:99867
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Aicardi-Goutieres Syndrome 1
Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Marshall-Smith Syndrome
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Recurrent upper respiratory tract ... OMIM:602535
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Short stature, Cachexia ORPHA:1969
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Primary testicular failure, Abnormal lymp... ORPHA:85450
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasi... OMIM:181270
Glycogen Storage Disease Ib
Short stature, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Delayed... OMIM:232220
Opitz-Kaveggia Syndrome
Short stature, Facial wrinkling, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:305450
Distal Deletion 19P
Alopecia, Vaginal hernia, Decreased circulating antibody level, Keloids, Umbilical hernia, Thick ... ORPHA:96129
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Growth delay, Pu... ORPHA:980
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura ORPHA:343
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Flexion contracture, Lymphadenopathy, Hepatosplenomegaly, Enth... ORPHA:85408
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Growth delay, Short stature, Thin nail OMIM:617799
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Weight loss, Goiter OMIM:188580
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Limb-Mammary Syndrome
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... ORPHA:69085
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo... ORPHA:2396
Familial Dysautonomia
Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... ORPHA:91347
Systemic Capillary Leak Syndrome
Leukocytosis, Weight loss ORPHA:188
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Bila... OMIM:263650
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Juvenile Huntington Disease
Weight loss ORPHA:248111
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Brucellosis
Liver abscess, Lung abscess, Miscarriage, Elevated circulating C-reactive protein concentration, ... ORPHA:1304
Juvenile Dermatomyositis
Alopecia, Myositis, Pericarditis, Skin rash, Dyspnea, Restrictive ventilatory defect, Arthritis, ... ORPHA:93672
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Hypoalbu... ORPHA:75565
Polycythemia Vera
Myelofibrosis, Splenomegaly, Weight loss, Acute leukemia ORPHA:729
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Weaver Syndrome
Sparse hair, Thin nail, Deep-set nails, Fine hair OMIM:277590
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Bronchitis, Growth delay, Pulmonary hypoplasia ORPHA:1199
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:99413
Mosaic Monosomy X
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:99228
Monosomy X
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:99226
Turner Syndrome
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:881
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Alopecia, Anteverted nares, Depressed nasal bridge, Cryptorchid... ORPHA:1507
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Sepsis, Persistent EBV... OMIM:619573
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Absent nipple, Short stature, Sparse eyebrow, Hypoplastic nippl... OMIM:620186
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Menkes Disease
Hypopigmentation of hair, Spontaneous hematomas, Prolonged neonatal jaundice, Sparse hair, Woolly... ORPHA:565
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Intrauterine growth retardation OMIM:619934
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Progeroid facial appearance, Sparse eyebrow, Postnatal growth retardation, Nail dy... OMIM:619127
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Short stature, Sparse eyebrow OMIM:244450
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Marfan Syndrome
Osteopenia, Inguinal hernia, Cachexia, Osteoporosis, Slender build ORPHA:558
Pitt-Hopkins Syndrome
Growth delay, Postnatal growth retardation, Acrocyanosis, Supernumerary nipple ORPHA:2896
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Short stature, Proger... OMIM:216400
Systemic Sclerosis
Alopecia, Osteomyelitis, Pericarditis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski... ORPHA:90291
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Recurrent lower respiratory tract infections, Cyanosis, Death in childhood OMIM:618426
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Premature Aging Syndrome, Penttinen Type
Sparse hair, Prominent superficial veins, Prematurely aged appearance OMIM:601812
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Lymphadenopathy ORPHA:411703
Ethylene Glycol Poisoning
Cyanosis, Pulmonary edema ORPHA:31826
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Osteootohepatoenteric Syndrome
Weight loss, Failure to thrive, Anemia, Reduced bone mineral density OMIM:619377
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Xeroderma Pigmentosum
Alopecia, Short stature, Flat nasal alae, Keratitis, Cryptorchidism, Hypogonadism, Blepharitis, D... ORPHA:910
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, T lymphocytopenia, B lymphocyto... OMIM:251260
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Sickle Cell Disease
Hypoxemia, Recurrent bacterial infections, Priapism OMIM:603903
Autosomal Dominant Robinow Syndrome
Alopecia, Severe short stature, Short stature, Anteverted nares, Curly eyelashes, Depressed nasal... ORPHA:3107
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia ORPHA:309031
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Abnormal pattern of respiration, Abnormality of... ORPHA:428
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Delayed menarche... ORPHA:740
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Severe short stature, Prominent nose, Long nose, Cryptorchidism, Dyspnea, Loss of eyela... ORPHA:2636
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... ORPHA:97283
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... OMIM:201810
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Scalp-Ear-Nipple Syndrome
Sparse hair, Abnormal fingernail morphology, Breast aplasia ORPHA:2036
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... ORPHA:97282
Nephroblastoma
Weight loss, Lymphadenopathy ORPHA:654
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Polyclonal e... ORPHA:171
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis, Growth delay OMIM:223900
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Long eyelashes, Neutrop... ORPHA:79430
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hyperthyroidism, S... ORPHA:3455
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Abnormal dental enamel morphology, Pancreatic cysts, Reduced bone mineral... ORPHA:2750
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Abnormal... ORPHA:548
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Weight loss ORPHA:65682
Orofaciodigital Syndrome I
Dry hair, Alopecia, Short stature, Pancreatic cysts, Ovarian cyst, Sparse hair, Enamel hypoplasia OMIM:311200
Cranioectodermal Dysplasia 2
Sparse eyelashes, Short stature, Rhizomelia, Sparse eyebrow, Recurrent pneumonia, Ectodermal dysp... OMIM:613610
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Cachexia, Reduced bone mineral density, Slender... ORPHA:828
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Caroli Disease
Liver abscess, Splenomegaly, Leukocytosis, Weight loss, Cholelithiasis, Abnormal circulating alph... ORPHA:53035
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Cutis marmorata, Short stature, Sparse hair, Intrauterine growth retardation OMIM:151050
Osteosarcoma
Osteolysis, Weight loss ORPHA:668
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... ORPHA:85443
Costello Syndrome
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Pneumothorax, Sparse hair, Fr... OMIM:218040
Congenital Tracheal Stenosis
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... ORPHA:141127
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Abnormality of the nail ORPHA:349
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis OMIM:109650
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Recurrent bacterial infections, Pulm... ORPHA:99104
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Hypoalbuminemia, Weight loss ORPHA:103910
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Pulmonary artery stenosis, Fine hair, Hypoplastic nipples, Sparse hair, Pe... OMIM:280000
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia ORPHA:52417
Q Fever
Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Weight loss, Granuloma, Increased circ... ORPHA:781
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Cyanosis ORPHA:1329
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Growth dela... ORPHA:251071
Neurocardiofaciodigital Syndrome
Sparse hair, Short stature, Sparse eyebrow OMIM:619869
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis ORPHA:99106
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasi... ORPHA:99921
Linear Nevus Sebaceus Syndrome
Growth delay, Alopecia, Adenoma sebaceum ORPHA:2612
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Lynch Syndrome
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... ORPHA:144
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Weight loss ORPHA:134
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Flexion contracture, Patchy alopecia, Progressive los... ORPHA:90289
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly... ORPHA:91139
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... ORPHA:97280
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion ORPHA:340
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Weight loss, O... ORPHA:1333
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight loss, Iron defici... ORPHA:100075
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Disproportionate short sta... OMIM:210710
Huntington Disease-Like 1
Weight loss ORPHA:157941
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Increased circulating ferritin conce... OMIM:615846
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Weight loss, Leukopenia, Thrombocytosis, Anemia ORPHA:20
Roberts Syndrome
Sparse hair, Postnatal growth retardation, Severe intrauterine growth retardation ORPHA:3103
Cartilage-Hair Hypoplasia
Sparse hair, Rhizomelia, Disproportionate short-limb short stature, Sparse eyebrow ORPHA:175
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Budd-Chiari Syndrome
Splenomegaly, Weight loss ORPHA:131
Chime Syndrome
Sparse hair, Erythema, Fine hair ORPHA:3474
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... OMIM:187300
Primary Hepatic Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weig... ORPHA:100085
Grfoma
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... ORPHA:97261
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema ORPHA:137675
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Coffin-Lowry Syndrome
Cutis marmorata, Short stature, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Acro... OMIM:303600
Restrictive Dermopathy
Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye... ORPHA:1662
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration, Increas... ORPHA:97287
Myhre Syndrome
Short stature, Fine hair, Birth length less than 3rd percentile, Sparse hair, Intrauterine growth... OMIM:139210
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic toenails, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return OMIM:306955
African Trypanosomiasis
Alopecia, Pericarditis, Abnormality of the menstrual cycle, Keratitis, Myocarditis, Abnormality o... ORPHA:3385
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Sparse scalp hair, Mild postnatal growth retardation, Recurrent... OMIM:150230
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atypical pulmonary... ORPHA:100080
Secondary Short Bowel Syndrome
Central hypothyroidism, Growth delay, Weight loss, Primary hypothyroidism, Failure to thrive ORPHA:95427
Cystinosis, Nephropathic
Hypopigmentation of hair, Diabetes mellitus, Short stature, Failure to thrive in infancy, Splenom... OMIM:219800
Ppoma
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... ORPHA:97278
Erdheim-Chester Disease
Increased bone mineral density, Hypogonadotropic hypogonadism, Osteolysis, Weight loss, Diabetes ... ORPHA:35687
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Diabetes mellitus, Elevated circulating alpha-fetopro... ORPHA:90003
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Failure to thrive, Abnormality of connective tissue, Weight loss ORPHA:79128
Perry Syndrome
Weight loss ORPHA:178509
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... ORPHA:143
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Wrinkly Skin Syndrome
Short stature, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet,... OMIM:278250
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Short stature, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior ... OMIM:619841
Renpenning Syndrome 1
Brittle hair, Short stature, Death in childhood, Sparse hair, Sparse lateral eyebrow OMIM:309500
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atypical pulmonary... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atypical pulmonary... ORPHA:100082
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... OMIM:600376
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature skin wrinkling, Hyp... OMIM:200110
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsulinemia, Weight loss ORPHA:2126
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Bone cyst, ... OMIM:181000
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis ORPHA:3427
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Short stature, Recurrent upper respiratory tract infections, Delayed puberty, Recurrent... ORPHA:293987
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal glands, Thyr... ORPHA:79078
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... OMIM:233450
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Short stature, Cryptorchidism, Reduced bone mineral d... ORPHA:84
Ring Chromosome 13 Syndrome
Alopecia, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Growth delay, Primary hypo... ORPHA:96176
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Abetalipoproteinemia
Respiratory failure ORPHA:14
Polymyositis
Elevated circulating creatine kinase concentration, Chondrocalcinosis, Weight loss ORPHA:732
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Short stature OMIM:617157
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Bronchiectasis, Emp... OMIM:123700
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar... ORPHA:440437
Criss-Cross Heart
Cyanosis ORPHA:1461
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Nail dysplasia OMIM:616682
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Telangiectasia, Patchy alopecia, ... OMIM:305600
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... OMIM:610655
Pancreatoblastoma
Weight loss, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph ... ORPHA:677
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss ORPHA:36426
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Weight loss, Hydrocele ... ORPHA:49041
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma, Hypophosphatemic rickets ORPHA:2874
Klatskin Tumor
Weight loss, Lymphadenopathy ORPHA:99978
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Failure to thrive ORPHA:649
Toxic Epidermal Necrolysis
Thrombocytopenia, Weight loss, Anemia, Neutropenia ORPHA:537
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:276621
Ileal Neuroendocrine Tumor
Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Increased serum ... ORPHA:100078
Viss Syndrome
Sparse scalp hair, Alopecia, Inguinal hernia, Short stature, Hypothyroidism, Increased circulatin... OMIM:619472
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... ORPHA:449395
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Rat-Bite Fever
Anemia, Lymphadenitis, Parotitis, Weight loss ORPHA:31205
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Sympathetic Ophthalmia
Alopecia, Posterior uveitis, Poliosis ORPHA:79098
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Cap Polyposis
Weight loss ORPHA:160148
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Lysinuric Protein Intolerance
Glomerulonephritis, Decreased response to growth hormone stimulation test, Respiratory insufficie... ORPHA:470
Menke-Hennekam Syndrome 1
Sparse hair, Recurrent upper respiratory tract infections, Long eyelashes, Thick eyebrow OMIM:618332
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Myasthenia Gravis
Acrocyanosis ORPHA:589
Liposarcoma
Weight loss ORPHA:69078
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Yao Syndrome
Weight loss OMIM:617321
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:29072
Branchiooculofacial Syndrome
Supernumerary nipple, Postnatal growth retardation, Low posterior hairline, Premature graying of ... OMIM:113620
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Perry Syndrome
Weight loss OMIM:168605
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... ORPHA:103918
Aortic Arch Interruption
Cyanosis, Aortopulmonary window ORPHA:2299
Adams-Oliver Syndrome 1
Alopecia, Small nail, Supernumerary nipple OMIM:100300
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Weight loss, Granulomatosis, Abnormality o... ORPHA:900
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100086
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Oromandibular Dystonia
Weight loss ORPHA:93958
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Fatal Familial Insomnia
Weight loss OMIM:600072
Pallister-Killian Syndrome
Omphalocele, Sparse scalp hair, Alopecia, Inguinal hernia, Rhizomelia, Sparse eyelashes, Supernum... OMIM:601803
Reactive Arthritis
Weight loss, Dystrophic fingernails, Abnormality of the nail, Enthesitis ORPHA:29207
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Short stature, Prolonged neonatal jaundice ORPHA:51
Eisenmenger Syndrome
Hypoxemia, Cyanosis, Aortopulmonary window ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... ORPHA:99125
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Vascular Ehlers-Danlos Syndrome
Alopecia, Inguinal hernia, Short stature, Abnormality of hair texture, Abnormal eyelash morpholog... ORPHA:286
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Weight loss OMIM:607459
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Weight loss, Increased ... ORPHA:91500
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Roberts-Sc Phocomelia Syndrome
Sparse hair, Stillbirth, Postnatal growth retardation, Severe intrauterine growth retardation OMIM:268300
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Growth delay, Aplasia of the sweat glands, Recurrent Staphylococcus aur... ORPHA:642
Primrose Syndrome
Sparse scalp hair, Short stature, Absent facial hair, Synophrys, Delayed puberty, Absent axillary... OMIM:259050
Behçet Disease
Orchitis, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:117
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Gerstmann-Straussler Disease
Weight loss OMIM:137440
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... ORPHA:2388
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Pulmonary sequestration OMIM:618330
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Growth delay, Osteomalacia, Weight loss ORPHA:3337
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Weight loss OMIM:164310
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis ORPHA:285

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 Cux1

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 Cux1.

No publications found that use IMPC mice or data for Cux1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cux1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter