Rare Disease Library

PEHO-like syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Pentasomy X syndrome

49,XXXXX syndrome · Penta-X

Periodic fever syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Poland syndrome

Poland anomaly · Poland sequence

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

PsAPASH syndrome

Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Shashi-Pena syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Symbrachydactyly of hands and feet

De Smet-Fabry-Fryns syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy 13 syndrome

Patau syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome